Abstract
Cystic fibrosis (CF) is the most common severe recessive genetic disorder in the Caucasian population. In 1938, D. H. Anderson provided the first comprehensive description of the disease and also introduced the name “cystic fibrosis of the pancreas.” Patients with CF suffer from excessive mucus accumulation resulting in severe clinical consequences in the respiratory, gastrointestinal, and genitourinary tracts (see Table I). All these symptoms are consistent with defects of exocrine glands, as suggested by S. Farber in 1945; he called the disease “mucoviscidosis,” a name still popular in some parts of continental Europe. CF patients also have elevated electrolyte levels in their sweat, an observation which, first described by di Sant’Agnese et al. (1953), became the hallmark for CF diagnosis.
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References
Aitken, D. A., and Hoogeveen, A., 1980, Alkaline phosphate activity of normal and cystic fibrosis fibroblasts, J. Med. Genet. 17: 187–190.
Anand, R., Ogilvie, D. J., Butler, R., Riley, J. H., Finniear, R. S., Powell, S. J., Smith, J. C., and Markham, A. F., 1991, A yeast artificial chromosome contig encompassing the cystic fibrosis locus, Genomics 9: 124–130.
Ammerman, A. J., and Cavalli-Sforza, L. L., 1984, The neolithic transition and the genetics of populations in Europe, Princeton University Press, Princeton.
Anderson, M. P., Rich, D. P., Gregory, R. J., Smith, A. E., and Welsh, M. J., 1991, Generation of cAMP-activated chloride currents by expression of CFTR, Science 251: 679–682.
Andersson, K. B., Sletten, K., Berntzen, H. B., Fagerhol, M. K., Dale, I., Brandtzaeg, P., and Jellum, E., 1988, Leukocyte LI protein and the cystic fibrosis antigen, Nature 332: 688.
Auvinet, M., Morel, Y., Chambon, V., Andre, J., Vidaud, M., Goossens, M., Bellon, G., and Gilly, R., 1989, Cystic fibrosis with and without meconium ileus, Lancet 1: 161.
Baker, S., and Dann, L. D., 1983, Peptidase in amniotic fluid: Low values in cystic fibrosis, Lancet 1: 716–717.
Ballabio, A., Gibbs, R. A., and Caskey, C. T., 1990, PGR test for cystic fibrosis deletion, Nature 343: 220.
Barker, D., Green, P., Knowlton, R., Schumm, J., Lander, E., Oliphant, A., Willard, H., Akots, G., Brown, V., Gravius, T., Helms, C., Nelson, C., Parker, C., Rediker, K., Rising, M., Watt, D., Weiffenbach, B., and Donis-Keller, H., 1987, Genetic linkage map of human chromosome 7 with 63 DNA markers, Proc. Natl. Acad. Sci. USA 84: 8006–8010.
Bartels, I., Grzeschik, K.-H., Cooper, D. N., and Schmidtke, J., 1986, Regional mapping of six cloned DNA sequences on human chromosome 7, Am. J. Hum. Genet. 38: 280–287.
Baxter, P. S., Wilson, A. J., Read, N. W., Hardcastle, J., Hardcastle, P. T., and Taylor, C. J., 1989, Abnormal jejunal potential difference in cystic fibrosis, Lancet 1: 464–466.
Beaudet, A. L., and Buffone, G. J., 1989, Prenatal diagnosis of cystic fibrosis, J. Pediatr. 111: 630–633.
Beaudet, A., Bowcock, A., Buchwald, M., Cavalli-Sforza, L., Farrall, M., King, M.-C., Klinger, K., Lalouel, J.-M., Lathrop, M., Naylor, S., Ott, J., Tsui, L.-C., Wainwright, B., Watkins, P., White, R., and Williamson, R., 1986, Linkage of cystic fibrosis to two tightly linked DNA markers: Joint report from a collaborative study, Am. J. Hum. Genet. 39: 681–693.
Beaudet, A. L., Spence, J. E., Montes, M., O’Brien, W. E., Estivill, X., Farrall, M., and Williamson, R., 1988, Experience with new DNA markers for the diagnosis of cystic fibrosis, N. Engl. J. Med. 318: 50–51.
Beaudet, A. L., Feldman, G. L., Fernbach, S. D., Buffone, G. J., and O’Brien, W. E., 1989, Linkage disequilibrium, cystic fibrosis and genetic counseling, Am. J. Hum. Genet. 44: 319–326.
Beaudet, A. L., Kazazian, H. H., Jr., and other panel members, 1990, Statement from the NIH Workshop on Population Screening for the Cystic Fibrosis Gene, N. Engl. J. Med. 323: 70–71.
Beck, S. A., and Alhadeff, J. A., 1983, Characterization of alpha-2-macroglobulin from plasma of cystic fibrosis patients and controls, Biochem. Med. 30: 34–42.
Behm, J. K., Hagiwara, G., Lewiston, N. J., Quinton, P. M., and Wine, J. J., 1987, Hyposecretion of beta-adrenergically induced sweating in cystic fibrosis heterozygotes, Pediatr. Res. 22: 271–276.
Ben-Yoseph, Y., Defranco, C. L., and Nadler, H. L., 1979, Decreased sialic acid and altered binding to lectins of purified alpha-2-macroglobulin from patients with cystic fibrosis, Clin. Chim. Acta 99: 31–35.
Beratis, N. G., Conover, J. H., Conod, E. J., Bonforte, R. J., and Hirschhorn, K., 1973, Studies on ciliary dyskinesia factor in cystic fibrosis. III. Skin fibroblasts and amniotic fluid cells, Pediatr. Res. 7: 958–964.
Berger, W., Hein, J., Gedschold, J., Bauer, I., Speer, A., Farrall, M., Williamson, R., and Coutelle, C., 1987, Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7, Hum. Genet. 77: 197–199.
Berschneider, H. M., Knowles, M. R., Azizkhan, R. G., Boucher, R. C., Tobey, N. A., Orlando, R. C., and Powell, D. W., 1988, Altered intestinal chloride transport in cystic fibrosis, FASEB J. 2: 2625–2629.
Besley, G. T. N., Patrick, A. D., and Norman, A. P., 1969, Inhibition of the motility of gillcilia of Dreissenia by plasma of cystic fibrosis patients and their parents, J. Med. Genet. 6: 278–280.
Bijman, J., and Fromter, E., 1986, Direct demonstration of high transepithelial chloride- conductance in normal human sweat gland duct which is absent in cystic fibrosis, Pflugers Arch. 407: S123–S127.
Bijman, J., and Quinton, P.M., 1984, Influence of abnormal Cl~ impermeability on sweating in cystic fibrosis, Am. J. Physiol. 247: C3–C9.
Blitzer, M. G., and Shapira, E., 1982, A purified serum glycopeptide from controls and cystic fibrosis patients. I. Comparison of their mucociliary activity on rabbit tracheal explants, Pediatr. Res. 16: 203–208.
Blitzer, M. G., and Shapira, E., 1984, A purified serum glycopeptide from controls and cystic fibrosis patients. III. The association of the ciliary dyskinetic activity with the oligosaccaride component, Pediatr. Res. 18: 540–543.
Bloomfield, J., Warton, K. L., and Brown, J. M., 1973, Flow rate and inorganic components of submandibular saliva in cystic fibrosis, Arch. Dis. Child. 48: 267–274.
Bloomfield, J., Rush, A. R., Allars, A. M., and Brown, J. M., 1976, Parotid gland function in children with cystic fibrosis and child control subjects, Pediatr. Res. 6: 574–578.
Boat, T. F., Welsh, M. J., and Beaudet, A. L., 1989, Cystic fibrosis, in: The Metabolic Basis of Inherited Disease, 6th ed. ( C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, eds.), McGraw-Hill, New York, pp. 2649–2680.
Böhm, D., Krawczak, M., and Schmidtke, J., 1988, Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus, Hum. Genet. 78: 186–187.
Botstein, D., White, R. L., Skolnick, M. H., and Davies, R. W., 1980, Construction of a genetic linkage map in man using restriction fragment length polymorphisms, Am. J. Hum. Genet. 32: 314–331.
Boucher, R. C., Stutts, M. J., Knowles, M. R., Cantley, L., and Gatzy, J. T., 1986, Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation, J. Clin. Invest. 78: 1245–1252.
Boue, A., Muller, F., Nezelof, C., Oury, J. F., Duchatel, F., Dumez, Y., Aubry, M. C., and Boue, J., 1986, Prenatal diagnosis in 200 pregnancies with a l-in-4 risk of cystic fibrosis, Hum. Genet. 74: 288–297.
Bowman, B. H., Lockhart, L. H., and McCombs, M. L., 1969, Oyster ciliary inhibition by cystic fibrosis factor, Science 164: 325–326.
Bowman, B. H., Lankford, B. J., Fuller, G. M., Carson, S. D., Kurowsky, A., and Barnett, D. R., 1975, Cystic fibrosis: The ciliary inhibitor is a small polypeptide associated with immunoglobulin G, Biochem. Biophys. Res. Commun. 64: 1310–1315.
Bowman, B. H., Barnett, D. R., Carson, S. D., and McNeely, M. C., 1980, Studies of cystic fibrosis utilizing mucociliary activity in oyster gills, Fed. Proc. 39: 3195–3200.
Branchini, B. R., Salituro, G. M., and Rosenstein, B. J., 1983, Identification of the major 4-methylumbelliferyl ß-guanidinobenzoate-hydrolyzing plasma protein in cystic fibrosis: Implications for intrauterine and heterozygote detection, Pediatr. Res. 17: 850–855.
Breslow, J. L., and McPherson, J., 1981, Sodium transport in cystic fibrosis fibroblasts not different from normal, N. Engl. J. Med. 305: 98.
Breslow, J. L., Epstein, J., Vayo, M. M., and Fontaine, J. H., 1977, Decreased ouabain binding in cystic fibrosis fibroblasts in potassium-free medium, Exp. Cell Res. 110: 399–407.
Breslow, J. L., Epstein, J., and Fontaine, J. H., 1978a, Dexamethasone-resistant cystic fibrosis fibroblasts show cross-resistance to sex steroids, Cell 13: 663–669.
Breslow, J. L., Epstein, J., Fontaine, J. H., and Forbes, G. B., 1978, Enhanced dexamethasone resistance in cystic fibrosis cells: Potential use for heterozygote detection and prenatal diagnosis, Science 201: 180–182.
Breslow, J. L., McPherson, J., and Epstein, J., 1981, Distinguishing homozygous and heterozygous cystic fibrosis fibroblasts from normal cells by differences in sodium transport, N. Engl. J. Med. 304: 1–5.
Bridges, M. A., Applegarth, D. A., Johannson, J., Wong, L. T. K., and Davidson, A. G. F., 1982, Protease binding by alpha-2-macroglobulin in cystic fibrosis, Clin. Chim. Acta 118: 33–43.
Brock, D., Curtis, A., Holloway, S., Burn, J., and Nelson, R., 1986, DNA typing to avoid need for prenatal diagnosis of cystic fibrosis, Lancet 11: 393.
Brock, D. J. H., 1983, Amniotic fluid alkaline phosphatase isoenzymes in early prenatal diagnosis of cystic fibrosis, Lancet 11: 941–943.
Brock, D. J. H., 1984, Amniotic fluid alkaline phosphatase isoenzymes in early prenatal diagnosis of cystic fibrosis, Lancet 1: 102.
Brock, D. J. H., 1986, DNA probes or microvillar enzymes or both for prenatal diagnosis of cystic fibrosis, J. Med. Genet. 23: 376–377.
Brock, D. J. H., 1988, Prenatal diagnosis of cystic fibrosis, Arch. Dis. Child. 63: 701–704.
Brock, D. J. H., 1989, Workshop on prenatal diagnosis of cystic fibrosis, in: Proceedings of the Seventh International Congress of Human Genetics, Springer-Verlag, Berlin, pp. 631–633.
Brock, D. J. H., and Hayward, C., 1983, Prenatal diagnosis of cystic fibrosis by methylumbelliferylguanidinobenzoate protease titration in amniotic fluid, Prenat. Diagn. 3: 1–5.
Brock, D. J. H., and van Heyningen, V., 1986a, The facts on cystic fibrosis testing, Nature 319: 184.
Brock, D. J. H., and van Heyningen, V., 1986, Error rates in prenatal cystic fibrosis diagnosis, Nature 321: 477.
Brock, D. J. H., Hayward, C., and Super, M., 1982, Controlled trial of serum isoelectric focusing in the detection of the cystic fibrosis gene, Hum. Genet. 60: 30–31.
Brock, D. J. H., Barron, L., Bedgood, D., and van Heyningen, V., 1984, Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase, Prenat. Diagn. 4: 421–426.
Brock, D. J. H., Clarke, H. A. K., and Barron, L., 1988, Prenatal diagnosis of cystic fibrosis by microvillar enzyme assay on a sequence of 258 pregnancies, Hum. Genet. 78: 271–275.
Bruggen, J., Tarcsay, L., Cerletti, N., Odink, K., Rutishauser, M., Hollander, G., and Sorg, C., 1988, The molecular nature of the cystic fibrosis antigen, Nature 331: 570.
Buchwald, M., 1976, Abnormal levels of 3′5′-cyclic AMP in isoproterenol-stimulated fibroblasts from patients with cystic fibrosis, Proc. Natl. Acad. Sci. USA 73: 2899–2903.
Buchwald, M., Zsiga, M., Markiewicz, D., Plavsic, N., Kennedy, D., Zengerling, S., Willard, H. F., Tsipouras, P., Schmiegelow, K., Schwartz, M., Eiberg, H., Mohr, J., Barker, D., Donis-Keller, H., and Tsui, L.-C., 1986, Linkage of cystic fibrosis to the pro«2(I) collagen gene, COL1A2, on chromosome 7, Cytogenet. Cell Genet. 41: 234–239.
Buckle, V. J., Scambler, P. J., and Wainwright, B. J., 1987, Localization of a sequence, 7C22, showing close linkage to the cystic fibrosis locus, Cytogenet. Cell Genet. 44: 41–42.
Bullock, S., Hayward, C., Manson, J., Brock, D. J. H., and Raeburn, J. A., 1982, Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis, Clin. Genet. 21: 336–341.
Burdick, A. B., 1977, Frequency of the gene for cystic fibrosis with a view of replacement and recognition effects and reproduction by homozygotes, Hum. Hered. 27: 366–371.
Burdon, M. G., 1980, Normal subunit cleavage of alpha-2-macroglobulin in cystic fibrosis, Clin. Chim. Acta 100: 225–229.
Burns, J., Melmer, G., Rommens, J. M., Riordan, J. R., and Buchwald, M., 1990, Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells, Hum. Genet. 85: 151–156.
Bury, A. F., and Barrett, A. J., 1982, Plasma arginine esterase in cystic fibrosis: Kinetics of activation, identification as plasma kallikrein, rection with alpha-2-macroglobulin and comparison with levels in normal plasma, Pediatr. Res. 16: 613–620.
Butterworth, J., 1980, Intracellular and extracellular alpha-D-mannosidase activity in cultured skin fibroblasts: Relationship to cystic fibrosis, Clin. Chim. Acta 108: 347–353.
Carbarns, N. J. B., Gosden, C., and Brock, D. J. H., 1983, Microvillar peptidase activity in amniotic fluid: Possible use in the prenatal diagnosis of cystic fibrosis, Lancet 1: 329–331.
Carey, W. F., and Hosli, P., 1979, Inhibition of Tamm-Horsfall glycoprotein induction of alkaline phosphatase in cystic fibrosis fibroblasts by medium conditioned by normal cells, Aust. J. Exp. Biol. Med. 57: 225–230.
Carey, W. F., and Pollard, A. C., 1979, Alkaline phosphatase induction in Caspi, B., Elchalal, U., Lancet, M., and Chemke, J., 1988, Prenatal diagnosis of cystic fibrosis: Ultrasonographic appearance of meconium ileus in the fetus, Prenat. Diagn. 8: 379–382.
Cassano, W. F., 1985, Cystic fibrosis and the plaque, Med. Hypotheses 18: 51–52.
Cassio, A., Bernardi, F., Piazzi, S., Capelli, M., Frejaville, E., Villa, M. P., Martelli, E., Balsamo, A., Salardi, S., Merighi, R., and Cacciari, E., 1984, Neonatal screening for cystic fibrosis by dried blood spot trypsin assay, Acta Pediatr. Scand. 73: 554–558.
Ceder, O., and Kollberg, H., 1983, Cystic fibrosis hydrolases are taken up by cultured fibroblasts, Acta Pediatr. Scand. 72: 291–292.
Ceder, O., Hosli, P., Vogt, E., and Kollberg, H., 1983, Diagnosis of cystic fibrosis homozygotes and heterozygotes from plasma and fibroblast cultures. A three-generation family study, Clin. Genet. 23: 298–303.
Chan, K. Y. H., Applegarth, D. A., and Davidson, A. G. F., 1977, Plasma arginine esterase activity in cystic fibrosis of the pancreas, Clin. Chim. Acta 74: 71–75.
Chehab, E. F., Johnson, J., Louie, E., Goossens, M., Kawasaki, E., and Erlich, H., 1991, A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the AF508 mutation: Implications for prenatal diagnosis and mutation origin, Am. J. Hum. Genet. 48: 223–226.
Chen, J. H., Schulman, H., and Gardner, P., 1989, A cAMP-regulated chloride channel in lymphocytes that is affected in cystic fibrosis, Science 243: 657–660.
Cheng, P.-W., Boat, T. F., Cranfill, K., Yankaskas, J. R., and Boucher, R. C., 1989, Increased sulfation of glycoconjugates by cultured nasal epithelial cells from patients with cystic fibrosis, J. Clin. Invest. 84: 68–72.
Cheng, S. H., Gregory, R. J., Marshall, J., Paul, S., Souza, D. W., White, G. A., O’Riordan, C. R., and Smith, A. E., 1990, Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis, Cell 63: 827–834.
Chernick, W. S., Barbero, G. J., and Parkins, F. M., 1961, Studies on submaxillary saliva in cystic fibrosis, J. Pediatr. 59: 890–898.
Chou, J. L., Rozmahel, R., and Tsui, L.-C., 1991, Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, submitted.
Claustres, M., Williams, C., and Williamson, R., 1989, Amplification of DNA for detection of cystic fibrosis-linked polymorphisms, J. Pediatr. 115: 749–752.
Cliff, W. H., and Frizzell, R. A., 1990, Separate CI- conductances activated by cAMP and Ca2+ in CI ß-secreting epithelial cells, Proc. Natl. Acad. Sci. USA 87: 4956–4960.
Coburn, M. D., Coburn, L. A., and Solomon, C. C., 1974, Plasma arginine esterase activity in cystic fibrosis, Am. Rev. Respir. Dis. 110: 368–369.
Collins, F. S., Drumm, M. L., Cole, J. L., Lockwood, W. K., Vande Woude, G. F., and Iannuzzi, M. C., 1987, Construction of a general human chromosome jumping library, with application to cystic fibrosis, Science 235: 1046–1049.
Colton, H. R., 1990, Screening for cystic fibrosis. Public policy and personal choices, N. Engl. J. Med. 322: 328–329.
Conneally, P. M., Merritt, A. D., and Yu, P.-L., 1973, Cystic fibrosis: Population genetics, Tex. Rep. Biol. Med. 31: 639–650.
Conover, J. H., Bonforte, R. J., Hathaway, P., Pciuc, S., Conod, E. J., Hirschhorn, K., and Kopel, F. B., 1973a, Studies of ciliary dyskinesia factor in cystic fibrosis. I. Bioassay and heterozygote detection in serum, Pediatr. Res. 7: 220–223.
Conover, J. H., Beratis, N. G., Conod, E. J., Aibender, E., and Hirschhorn, K., 1973, Studies on ciliary dyskinesia factor in cystic fibrosis. II. Short term leukocyte cultures and long term lymphoid lines, Pediatr. Res. 7: 224–228.
Cooper, C. S., Park, M., Blair, D. G., Tainsky, M. A., Huebner, K., Croce, C. M., and Vande Woude, G. F., 1985, Molecular cloning of a new transforming gene from a chemically transformed human cell line, Nature 311: 29–33.
cystic fibrosis fibroblasts, Med. J. Aust. 2:604–605.
Corey, M., Durie, P., Moore, D., Forstner, G. G., and Levison, H., 1989, Familial concordance of pancreatic function in cystic fibrosis, J. Pediatr. 115: 274–279.
Cotton, C. U., Stutts, M. J., Knowles, M. R., Gatzy, J. T., and Boucher, R. C., 1987, Abnormal apical cell membrane in cystic fibrosis respiratory epithelium, J. Clin. Inv. 79: 80–85.
Cox, T. K., Kerem, B., Rommens, J., Iannuzzi, M. C., Drumm, M., Collins, F. S., Dean, M., Tsui, L.-C., and Chakravarti, A., 1989, Mapping ot the cystic fibrosis gene using putative ancestral recombinants, Am. J. Hum. Genet. 45: A136.
Crawfurd, M. D., 1972, A genetic study, including evidence for heterosis, of cystic fibrosis of the pancreas, Heredity 29: 126.
Cremonesi, L., Ruocco, L., Seia, M., Russo, S., Giunta, A., Ronchetto, P., Fenu, L., Romano, L., Devoto, M., Romeo, G., and Ferrari, M., 1990, Frequency of the AF508 mutation in a sample of 175 Italian cystic fibrosis patients, Hum. Genet. 85: 400–402.
Crossley, J. R., Elliott, R. B., and Smith, P. A., 1979, Dried-blood spot screening for cystic fibrosis in the newborn, Lancet 1: 472–474.
Crossley, J. R., Smith, P. A., Edgar, B. W., Gluckman, P. D., and Elliott, R. B., 1981, Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots, Clin. Chim. Acta 113: 111–121.
Crow, J. F., 1965, Problems of ascertainment in the analysis of family data, in: Genetics and Epidemiology of Chronic Disease (J. V. Neel, M. W. Shaw, and W. J. Schull, eds.), U. S. Government Printing Office, Washington, D. C., pp. 23–44.
Cuppens, H., Marynen, P., De Boeck, C., and Cassiman, J. J., 1990, Study of the G542X and G458V mutations in a sample of Belgian patients, Pediatr. Pulmonol. (Suppl.) 5: 203.
Curtis, A., Strain, L., and Brock, D. J. H., 1988a, Genotyping of cystic fibrosis families with linked DNA probes, Clin. Genet. 33: 53–56.
Curtis, A., Strain, L., Mennie, M., Holloway, S., Raeburn, J. A., Besley, G. T. N., and Brock, D. J. H., 1988, First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes, Prenat. Diagn. 8: 625–628.
Curtis, A., Strain, L., Mennie, M., and Brock, D. J. H., 1988c, Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues, J. Med. Genet. 25: 79–82.
Curtis, A., Jackson, J., Keston, M., and Brock, D. J., 1989, Genetic differences between cystic fibrosis with and without meconium ileus, Lancet 1: 1078–1079.
Cutting, G. R., Antonarakis, S. E., Buetow, K. H., Kasch, L. M., Rosenstein, B. J., and Kazazian, H. H., Jr., 1989, Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American Black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene, Am. J. Hum. Genet. 44: 307–318.
Cutting, G. R., Kasch, L. M., Rosenstein, B. J., Zielenski, J., Tsui, L.-C., Antonarakis, S. E., and Kazazian, H. H., Jr., 1990a, A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein, Nature 346: 366–369.
Cutting, G. R., Kasch, L. M., Rosenstein, B. J., Tsui, L.-C., Kazazian, H. H., Jr., and Antonarakis, S. E., 1990b, Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease, N. Engl. J. Med. 323: 1685–1689.
Danes, B. S., 1973, Association of cystic fibrosis factor to metachromasia of the cultured cystic fibrosis fibroblast, Lancet 11: 765–767.
Danes, B. S., and Beam, A. G., 1968, A genetic cell marker in cystic fibrosis of the pancreas, Lancet 1: 1061–1063.
Danes, B. S., and Beam, A. G., 1969, Cystic fibrosis of the pancreas. A study in cell culture, J. Exp. Med. 129: 775–790.
Danes, B. S., and Beam, A. G., 1972, Oyster ciliary inhibition by cystic fibrosis culture medium, J. Exp. Med. 136: 1313–1317.
Danes, B. S., Litwin, S. D., Hutteroth, T. H., Cleve, H., and Beam, A. G., 1973, Characterization of cystic fibrosis factor and its interaction with human immunoglobulin, J. Exp. Med. 137: 1538–1543.
Danes, B. S., Beck, B., and Flensborg, E. W., 1975, Cystic fibrosis heterozygote detection: A family study, Clin. Genet. 8: 85–91.
Danes, B. S., Hodson, M. E., and Batten, J., 1976, Cystic fibrosis: A cell culture study on an adult patient population, Clin. Genet. 9: 527–532.
Danes, B. S., Hodson, M. E., and Batten, J., 1977, Cystic fibrosis: Evidence for a genetic compound from a family study in cell culture, Clin. Genet. 11: 83–90.
Daniel, A., Stewart, L., Lam-Po-Tang, P. R. L. C., Beveridge, J., and Morton, J., 1981, Growth induction in cystic fibrosis fibroblasts with low dexamethasone concentrations. Experience with application to genotyping, Hum. Genet. 57: 96–98.
Danks, D. M., Allan, J., and Anderson, C. M., 1965, A genetic study of fibrocystic disease of the pancreas, Ann. Hum. Genet. 28: 323–356.
Danks, D. M., Allan, J., Phelan, P. D., and Chapman, C., 1983, Mutations at more than one locus may be involved in cystic fibrosis—Evidence based on first cousin data and direct counting of cases, Am. J. Hum. Genet. 35: 838–844.
Danks, D. M., Pheland, P. D., and Chapman, C., 1984, Retraction: No evidence for more than one locus in cystic fibrosis, Am. J. Hum. Genet. 36: 1401–1402.
Davies, K. E., Gilliam, T. C., and Williamson, R., 1983, Cystic fibrosis is not caused by a defect in the gene coding for human complement C3, Mol. Biol. Med. 1: 185–190.
Davis, P. B., and di Sant’ Agnese, P. A., 1980, A review. Cystic fibrosis at forty—quo vadis?, Pediatr. Res. 14: 83–87.
Davis, P. B., and Kaliner, M., 1983, Autonomic nervous system abnormalities in cystic fibrosis, J. Chron. Dis. 36: 269–278.
Davis, P. B., and Laundon, C., 1980, Adenylate cyclase in leukocytes from patient with cystic fibrosis, J. Lab. Clin. Med. 96: 75–84.
Davis, P. B., Braunstein, M., and Jay, C., 1978, Decreased adenosine 3′5′-monophosphate response to isoproterenol in cystic fibrosis leukocytes, Pediatr. Res. 12: 703–707.
Davis, P. B., Hill, S. C., and Ulane, M. M., 1980, Hormone-stimulated cyclic AMP production by skin fibroblasts cultured from healthy persons and patients with cystic fibrosis, Pediatr. Res. 14: 863–868.
Davis, P. B., Dieckman, L., Boat, T. F., Stern, R. C., and Doershuk, C. F., 1983, Beta adrenergic receptors in lymphocytes and granulocytes from patients with cystic fibrosis, Clin. Invest. 71: 1787–1795.
Dawson, D. B., Cummins, L. A., Schaid, D. J., Michels, V. V., Gordon, H., O’Connell, E. J., and Thibodeau, S. N., 1989, Carrier identification of cystic fibrosis by recombinant DNA techniques, Mayo Clin. Proc. 64: 325–334.
Dean, M., 1988, Review: Molecular and genetic analysis of cystic fibrosis, Genomics 3: 93–99.
Dean, M., Park, M., Le Beau, M. M., Robins, T. S., Diaz, M. O., Rowley, J. D., Blair, D. G., and Vande Woude, G. F., 1985, The human met oncogene is related to the tyrosine kinase oncogenes, Nature 318: 385–388.
Dean, M., O’Connell, P., Leppert, M., Park, M., Amos, J. A., Phillips, D. G., White, R., and Vande Woude, G. F., 1987, Three additional DNA polymorphisms in the met gene and D7S8 locus: Use in prenatal diagnosis of cystic fibrosis, J. Pediatr. 111: 490–495.
Dean, M., White, M., Amos, J., Gerrard, B., Stewart, C., Khaw, K.-T., and Leppert, M., 1990, Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients, Cell 61: 863–870.
Deaven, L. L., Van Dilla, M. A., Bartholdi, M. F., Carano, A. V., Cram, L. S., Foscoe, J. C., Gray, J. W., Hilderbrand, C. E., Moyzis, R. K., and Perlman, S., 1986, Construction of human chromosome-specific DNA libraries from flow-sorted chromosomes, Cold Spring Harbor Symp. Quant. Biol. 51: 159–167.
Dechecchi, M. C., Girella, E., Cabrini, G., and Berton, G., 1988, The Km of NADH dehydrogenase is decreased in mitochondria of cystic fibrosis cells, Enzyme 40: 45–50.
Denaro, M., and Romeo, G., 1980, Antibodies cross-reacting with porcine and human trypsin in cystic fibrosis, Pediatr. Res. 14: 1086–1087.
Devoto, M., DeBenedictti, L., Seia, M., Piceni-Sereni, L., Ferrari, M., Bonduelle, M. L., Malfroot, A., Lissens, W., Balassopoulou, A., Adam, G., Loukopoulos, D., Cochaux, P., Vassert, G., Szibor, R., Hein, J., Grade, K., Berger, W., Wainwright, B., and Romeo, G., 1989, Haplotypes in cystic fibrosis patients with and without pancreatic insufficiency from four European populations, Genomics 5: 848–849.
Devoto, M., Ronchetto, P., Romano, L., and Romeo, G., 1990, Analysis of AF508 does not confirm a previously reported recombination in a cystic fibrosis family, Am. J. Hum. Genet. 46: 1004–1005.
Devoto, M., Ronchetto, P., Fanen, P., Telleria Orriols, J. J., Romeo, G., Goossens, M., Ferrari, M., Magnani, C., Seia, M., and Cremonesi, L., 1991, Screening for nondelta F508 mutations in five exons of the CFTR gene in Italy, Am. J. Hum. Genet. 48: 1127–1132.
di Sant’Agnese, P. A., Darling, R. C., Perera, G. A., and Shea, E., 1953, Abnormal electrolytic composition of sweat in cystic fibrosis of the pancreas. Clinical significance and relationship of the disease, Pediatrics 12: 549–563.
Dodge, J. A., 1988, Implications of the new genetics for screening for cystic fibrosis, Lancet 11: 672–674.
Dorin, J. R., Novak, M., Hill, R. E., Brock, D. J. H., Secher, D. S., and van Heyningen, V., 1987, A clue to the basic defect in cystic fibrosis from cloning the CF antigen gene, Nature 326: 614–617.
Dorin, J. R., Inglis, J. D., and Porteous, D. J., 1989, Selection of precise chromosomal targeting of a dominant marker by homologous recombination, Science 243: 1357–1360.
Dôrk, T., Wolbrand, U., and Tummler, B., 1991a, A Hinfl polymorphism in the cystic fibrosis gene CFTR, Nucleic Acids Res. 19: 2517.
Dôrk, T., Wolbrand, U., Richter, T., Neumann, T., Wolfes, H., Wolf, B., Maass, G., and Tummler, B., 19916, Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene, Hum. Genet., in press.
Drumm, M. L., Smith, C. L., Dean, M., Cole, J. L., Iannuzzi, M. C., and Collins, F. S., 1988, Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis, Genomics 2: 346–354.
Drumm, M. L., Pope, H. A., Cliff, W. H., Rommens, J. M., Marvin, S. A., Tsui, L.-C., Collins, F. S., Frizzell, R. A., and Wilson, J. M., 1990, Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer, Cell 62: 1227–1233.
Dry, P. J., Wake, S., Robertson, C. F., Colley, P., and Sheffield, L. J., 1989, Analysis of DNA probes for the prenatal diagnosis of cystic fibrosis, Med. J. Aust. 151: 131–136.
Duncan, A., Buchwald, M., and Tsui, L.-C., 1988, Sublocalization of two cloned chromosome 7 sequences closely linked to the cystic fibrosis locus, Cytogenet. Cell Genet. 49: 309–310.
Edwards, J. H., 1977, Heterozygote advantage, Arch. Dis. Child. 52: 343–344.
Edwards, J. H., 1987, Exclusion mapping, J. Med. Genet. 24: 539–543.
Edwards, J. H., Jonasson, J. A., and Blackwell, N. L., 1984, Locus for cystic fibrosis, Lancet i:1020.
Eiberg, H., Mohr, J., Schmiegelow, K., Nielsen, L. S., and Williamson, R., 1985, Linkage relationships of paraoxonase (PON) with other markers: Indication of POTV-cystic fibrosis syntheny, Clin. Genet. 28: 265–271.
Eiberg, H., Schmiegelow, K., Kock, C., Mohr, J., Schwartz, M., and Niebuhr, E., 19856, Clin. Genet. 27: 206.
Epstein, J., and Breslow, J. L., 1977, Increased resistance of cystic fibrosis fibroblasts to ouabain toxicity, Proc. Natl. Acad. Sci. USA 74: 1676–1679.
Epstein, J., Breslow, J. L., and Davidson, R. L., 1977, Increased dexamethasone resistance of cystic fibrosis fibroblasts, Proc. Natl. Acad. Sci. USA 74: 5642–5646.
Epstein, J., Breslow, J. L., Fitzsimmons, M. J., and Vayo, M. M., 1978, Pleiotropic drug resistance in cystic fibrosis fibroblasts: Increased resistance to cyclic AMP, Somat. Cell Genet. 4: 451–464.
Erbe, R. W., Gordon, R. S., Liedtke, C., Boat, T. F., Stern, R. C., Dearborn, D. G., and Shapiro, B. L., 1981, Sodium transport in cystic fibrosis fibroblasts, N. Engl. J. Med. 304: 974–976.
Estivill, X., Schmidtke, J., Williamson, R., and Wainwright, B., 1986, Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HGM8 assignment D7S13), Hum. Genet. 74: 320–322.
Estivill, X., Farrall, M., Scambler, P. J., Bell, G. M., Hawley, K. M. F., Lench, N. J., Bates, G. P., Kruyer, H. C., Frederick, P. A., Stanier, P., Watson, E. K., Williamson, R., and Wainwright, B. J., 1987a, A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands, Nature 326: 840–845.
Estivill, X., Scambler, P. J., Wainwright, B. J., Hawley, K., Frederick, P., Schwartz, M., Baiget, M., Kere, J., Williamson, R., and Farrall, M., 1987, Patterns of polymorphism and linkage disequilibrium for cystic fibrosis, Genomics 1: 257–263.
Estivill, X., Farrall, M., Williamson, R., Ferrari, M., Seia, M., Giunta, A. M., Novelli, G., Potenza, L., Dallapicolla, D., Borgo, G., Gasparini, P., Pignatti, P. F., De Benedetti, L., Vitale, E., Devoto, M., and Romeo, G., 1988, Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: A collaborative study, Am. J. Hum. Genet. 43: 23–28.
Estivill, X., McLean, C., Nunes, V., Casals, T., Gallano, P., Scambler, P., and Williamson, R., 1989a, Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3ll (D7S8) and IRP, Am. J. Hum. Genet. 44: 704–710.
Estivill, X., Gasparini, P., Novelli, G., Casals, T., Nunes, V., Gallano, P., Savioa, A., Ruzzo, A., Dallapiccola, B., and Pignatti, P. F., 1989b, Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations, Hum. Genet. 83: 175–178.
Estivill, X., Chilton, M., Casals, T., Bosch, A., Morral, N., Nunes, V., Gasparini, P., Seia, A., Pignatti, P. F., Novelli, G., Dallapicolla, B., Fernadez, E., Benitez, J., and Williamson, R., 1989c, AF508 gene deletion in cystic fibrosis in southern Europe, Lancet 11: 1404–1405.
Farrall, M., Rodeck, C. H., Stanier, P., Lissens, W., Watson, E., Law, H.-Y., Warren, R., Super, M., Scambler, P., Wainwright, B., and Williamson, R., 1986a, First-trimester prenatal diagnosis of cystic fibrosis with linked DNA marker, Lancet 1: 1402–1405.
Farrall, M., Scambler, P., Klinger, K. W., Davies, K., Worrall, C., Williamson, R., and Wainwright, B., 1986, Cystic fibrosis carrier detection using a linked gene probe, J. Med. Genet. 23: 295–299.
Farrall, M., Watson, E., Bates, G., Bell, G., Bell, J., Davies, K. E., Estivill, X., Kruyer, H., Law, H.-Y., Lench, N., Lissens, W., Simon, P., Scambler, P., Stanier, P., Vassart, G., Worrall, C., Williamson, R., and Wainwright, B. J., 1986c, Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11, Am. J. Hum. Genet. 39: 713–719.
Farrall, M., Estivill, X., and Williamson, R., 1987a, Indirect cystic fibrosis carrier detection, Lancet 11: 156–157.
Farrall, M., Wainwright, B. J., Feldman, G. L., Beaudet, A., Sretenovic, Z., Halley, D., Simon, M., Dickerman, L., Devoto, M., Romeo, G., Kaplan, J.-C., Kitzis, A., and Williamson, R., 1988, Recombinations between IRP and cystic fibrosis, Am. J. Hum. Genet. 43: 471–475.
Feigal, R. J., and Shapiro, B. L., 1979a, Altered intracellular calcium in fibroblasts from patients with cystic fibrosis and heterozygotes, Pediatr. Res. 13: 764–768.
Feigal, R. J., and Shapiro, B. L., 1919b, Mitochondrial calcium uptake and oxygen consumption in cystic fibrosis, Nature 278: 276–277.
Feigal, R. J., Tomczyk, M. S., and Shapiro, B. L., 1982, The calcium abnormality in cystic fibrosis mitochondria: Relative role of respiration and ATP hydrolysis, Life Sci. 30: 93–98.
Feldman, G. L., Williamson, R., Beaudet, A. L., and O’Brien, W. E., 1988, Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism, Lancet 11: 102.
Feldman, G. L., Lewiston, N., Fernbach, S. D., O’Brien, W. E., Williamson, R., Wainwright, B., and Beaudet, A. L., 1989, Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l-in-4 risk, Am. J. Med. Genet. 32: 238–241.
Fernández, E., Benitez, J., Villamar, M., and Ramos, C., 1990, Linkage disequilibrium between cystic fibrosis locus and three DNA markers, XV-2c, KM 19 and MP6d-9, in 43 Spanish families, Hum. Genet. 84: 378–380.
Ferrari, M., Antonelli, M., Bellini, F., Borgo, G., Castiglioni, O., Curcio, L., Dallapicolla, B., Devoto, M., Estivill, X., Gasparini, P., Giunta, A., Marianelli, L., Mastella, G., Novelli, G., Pignati, P. F., Romano, L., Romeo, G., Scia, M., and Williamson, R., 1990, Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency, Hum. Genet. 84: 435–438.
Fluharty, A. L., Porter, M. T., Scott, M., Hirsh, G., and Kihara, H., 1970, Artificially induced metachromasia in cultured human fibroblasts, Biochem. Biophys. Res. Commun. 40: 1514–1519.
Fontaine, F., Vasseur, F., Savary, J. B., Menais, M., Roussel, M., and Deminatti, M. M., 1988, Usefulness of linked DNA probes for prenatal diagnosis of cystic fibrosis: Report of a case in a 1:4 risk pregnancy, Ann. Genet. 31: 102–104.
Fratantoni, J. C., Hall, C. W., and Neufeld, E. F., 1969, The defect in Hurler and Hunter syndromes. Deficiency of specific factors in mucopolysaccharide degradation, Proc. Natl. Acad. Sci. USA 64: 360–366.
Fried, M. D., Durie, P. R., Tsui, L.-C., Corey, M., Levison, H., and Pencharz, P. B., 1991, The cystic fibrosis gene and resting energy expenditure, J. Pediatr., accepted.
Frizzell, R. A., Rechkemmer, G., and Shoemaker, R. L., 1986, Altered regulation of airway epithelial cell chloride channels in cystic fibrosis, Science 233: 558–560.
Fujiwara, T. M., Morgan, K., Schwartz, R. H., Doherty, R. A., Miller, S. R., Klinger, K., Stanislovitis, P., Stuart, N., and Watkins, P. C., 1989, Geneological analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren, Am. J. Hum. Genet. 44: 327–337.
Fulton, T. R., Bowcock, A. M., Smith, D. R., Daneshvar, L., Green, P., Cavalli-Sforza, L. L., and Donis-Keller, H., 1989, A 12 megabase restriction map at the cystic fibrosis locus, Nucleic Acids Res. 17: 271–284.
Galant, S. P., Norton, L., Herbst, J., and Wood, C., 1981, Impaired beta adrenergic receptor binding and function in cystic fibrosis neutrophils, J. Clin. Invest. 68: 253–258.
Gasparini, P., Pignatti, P. F., and Mastella, G., 1989, Sex difference in D7S8 marker in allelic distribution in adult cystic fibrosis patients, Lancet 11: 686–687.
Gasparini, P., Cappello, N., Dallapicolla, B., Devoto, M., Estivill, X., Ferrari, M., Leoni, G., Novelli, G., Piazza, A., Pignatti, P. F., Rosatelli, C., Romeo, G., Savoia, A., Seia, M., and Williamson, R., 1990, Regional distribution of cystic fibrosis linked DNA haplotypes in Italy: a collaborative study, Gene Geogr. 4: 53–64.
Gasparini, P., Nunes, V., Savoia, A., Dognini, M., Morral, N., Gaona, A., Bonizzato, A., Chillon, M., Sangiuolo, F., Novelli, G., Dallapiccola, B., Pignatti, P. F., and Estivill, X., 1991, The search of Southern European cystic fibrosis mutations: Identification of two new mutations, four variants, and intron sequences, Genomics 10: 193–200.
Geddes, D. M., and Alton, E., 1989, Cystic fibrosis: Towards the basic defect, Q. J. Med. 69: 945–947.
Gedschold, J., Kropf, S., Szibor, R., and Berger, M., 1987, Cystic fibrosis—A single locus disease? Results of a population genetics study, Hum. Genet. 75: 277–280.
Gibinski, K., Szaton, R., and Maraszek, J., 1963, Evaluation of gamma-glutamyl transpeptidase (GGTP) and leucylaminopeptidase (LAP) determinations in internal diseases, Gastroenterologia 99: 237–246.
Gilbert, F., Tsao, K.-L., Mendoza, A., Mulivor, R., Gluckson, M. M., and Denning, C. R., 1988, Prenatal diagnosis options in cystic fibrosis, Am. J. Obstet. Gynecol. 158: 947–952.
Gloria-Bottini, F., Antonelli, M., Quattrucci, S., Cardi, E., and Bottini, E., 1980, Is there a relationship between sex of cystic fibrosis carriers and sex ratio of their offspring?, Hum. Genet. 54: 79–82.
Goldstein, J. L., Nash, N. T., Al-Bazzaz, F., Layden, T. J., and Rao, M. C., 1988, Rectum has abnormal ion transport but normal cAMP-binding proteins in cystic fibrosis, Am. J. Physiol. 254: C719–C724.
Goodchild, M. C., Edwards, J. H., Glenn, K. P., Grindey, C., Harris, R., Mackintosh, P., and Wentzel, J., 1976, A search for linkage in cystic fibrosis, J. Med. Genet. 13: 417–419.
Goodman, H. O., and Reed, S. C., 1952, Heredity of fibrosis of the pancreas: Possible mutation rate of the gene, Am. J. Hum. Genet. 4: 59–71.
Gray, M. A., Harris, A., Coleman, L., Greenwell, J. R., and Argent, B. E., 1989, Two types of chloride channels on duct cells cultured from human fetal pancreas, Am. J. Physiol. 257: C240–C251.
Green, E. D., and Olson, M. V., 1990, Chromosome region of the cystic fibrosis gene in yeast artificial chromosomes: A model for human genome mapping, Science 250: 94–98.
Green, J. R., Lentze, M. J., Rossi, E., Sidiropoulos, D., and Schubinger, G., 1982, Prenatal detection of cystic fibrosis: False negative result with the 4-methylumbelliferyl-ß- guanidinobenzoate assay for proteases in amniotic fluid, Eur. J. Pediatr. 139: 35–38.
Gregory, R. J., Cheng, S. H., Rich, D. R., Marshall, J., Paul, S., Hehir, K., Ostedgaard, L., Klinger, K. W., Welsh, M. J., and Smith, A. E., 1990, Expression and characterization of the cystic fibrosis transmembrane conductance regulator, Nature 347: 382–386.
Guillermit, H., Fanem, P., and Ferec, C., 1990, A 3’ splice site consensus sequence mutation in the cystic fibrosis gene, Hum. Genet. 85: 450–453.
Hallinan, F. M., Kenny, D., and Tempany, E., 1981, A study of isoelectric focusing in polyacrylamide gels of serum proteins as a cystic fibrosis screening test, Clin. Chim. Acta 117: 103–110.
Harper, P. S., 1986, DNA prediction in cystic fibrosis, J. Med. Genet. 23: 289–290.
Harris, A., 1981, Intracellular retention of lysosomal enzymes in cystic fibrosis, Clin. Genet. 20: 315–319.
Harris, A., Benson, P. F., and Fenson, A. H., 1979, Detection of cystic fibrosis with plasma hydrolases, Lancet 11: 1391.
Harris, A., Quinlan, C., and Bobrow, M., 1988, Cystic fibrosis typing with DNA probes: Experience of a screening laboratory, Hum. Genet. 79: 76–79.
Hay, J. G., and Geddes, D. M., 1985, Transepithelial potential difference in cystic fibrosis, Thorax 40: 493–496.
Hay ward, C., Chung, S., Brock, D. J. H., and van Heyningen, V., 1986, Monoclonal antibodies to the cystic fibrosis antigen, J. Immunol. Meth. 91: 117–122.
Hay ward, C., Glass, S., van Heyningen, V., and Brock, D. J. H., 1987, Serum concentration of a granulocyte-derived calcium-binding protein in cystic fibrosis patients and heterozygotes, Clin. Chim. Acta 170: 45–56.
Heeley, A. F., Heeley, M. E., King, D. N., Kuzemko, J. A., and Walsh, M. P., 1982, Screening for cystic fibrosis by dried blood spot trypsin assay, Arch. Dis. Child. 57: 18–21.
Herzberg, V., Calvert, L., and Bowman, B. H., 1973, Evidence that the ciliary inhibitor is not an antibody, Clin. Invest. 52: 2732–2736.
Highsmith, W. E., Jr., Strong, T., Burch, N., Smith, T., Silverman, L. M., Collins, F. S., Boucher, R., and Knowles, M. R., 1990, Identification of a splicing error of exon 14b giving rise to a frameshift mutation in a consanguineous family with mild cystic fibrosis, Pediatr. Pulmonol. (Suppl.) 5:11 A.
Hill, A. J. M., Graham, C. A., Kelly, E. D., Morrison, P. J., and Nevin, N. C., 1989, Linkage disequilibrium and CF allele segregation analysis in cystic fibrosis families in Northern Ireland, Hum. Genet. 83: 391–394.
Hirani, S., and Winchester, B. G., 1979, Detection of cystic fibrosis homozygotes and heterozygotes with plasma, Lancet 11: 906–907.
Hollander, D. H., 1982, Etiogenesis of the European cystic fibrosis polymorphism: Heterozygote advantage against venereal syphilis?, Med. Hypotheses 8: 191–197.
Holloway, S., and Brock, D. J. H., 1989, Risk of fetal cystic fibrosis based on linkage disequilibrium data, Hum. Genet. 83: 52–54.
Hosli, P., 1976, Simple ultramicrotechnique for genetic complementation analysis and early prenatal diagnosis of sphingolipidjoses, in: Current Trends in Sphingolipidoses and Allied Disorders ( B. W. Volk and L. Schneck, eds.), Plenum Press, New York, pp. 1–13.
Hosli, P., and Vogt, E., 1977, Cystic fibrosis: Leakage of lysosomal enzymes and of alkaline phosphatase into the extracellular space, Biochem. Biophys. Res. Commun. 79: 741–748.
Hosli, P., and Vogt, E., 1978, Reliable detection of cystic fibrosis in skin-derived fibroblast cultures, Hum. Genet. 41: 169–173.
Hosli, P., and Vogt, E., 1979a, Cystic fibrosis: Decreased thermostability of alpha- mannosidase in crude extracellular fluids of patients and carriers, FEBS Lett. 104: 271–274.
Hosli, P., and Vogt, E., 19796, Detection of cystic fibrosis homozygotes and heterozygotes with plasma, Lancet 11: 543–545.
Hosli, P., Erickson, R. P., and Vogt, E., 1976, Prospects for prenatal diagnosis of cystic fibrosis: Induction of biochemical abnormalities in fibroblasts from patients with cystic fibrosis by a urinary glycoprotein, Biochem. Biophys. Res. Commun. 73: 209–216.
Hosli, P., Kollberg, H., and Vogt, E., 1978, Reliable diagnosis of the major type of cystic fibrosis with fibroblasts cultures. A double blind study, Acta Pediatr. Scand. 67: 617–620.
Hosli, P., Kollberg, H., and Vogt, E., 1979, Operational definition of cystic fibrosis I. Monogr. Pediatr. 10: 90–95.
Hultberg, B., Ceder, O., and Kollberg, H., 1981, Acid hydrolases in sera and plasma from patients with cystic fibrosis, Clin. Chim. Acta 112: 167–175.
Huth, A., Estivill, X., Grade, K., Billwitz, H., Speer, A., Rosenthal. A., Williamson, R., Ramsay, M., and Coutelle, C., 1989, Polymerase chain reaction for detection of the pMP6d.9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation, Nucleic Acids Res. 17: 7118.
Hwang, T.-C., Lu, L., Zeitlin, P. L., Gruenert, D. C., Huganir, R., and Guggino, W. B., 1989, Cl_ channels in CF: Lack of activation by protein kinase C and cAMP-dependent protein kinase, Science 244: 1351–1353.
Hyde, S. C., Emsley, P., Hartshorn, M. J., Mimmack, M. M., Gileadi, U., Pearce, S. R., Gallagher, M. P., Gill, D. R., Hubbard, R. E., and Higgins, C. F., 1990, Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport, Nature 346: 362–365.
Iannuzzi, M. C., and Collin, F. S., 1990, Reverse genetics and cystic fibrosis, Am. J. Respir. Cell. Mol. Biol. 2: 309–316.
Iannuzzi, M. C., Dean, M., Drumm, M. L., Hidaka, N., Cole, J. L., Perry, A., Stewart, C., Gerrard, B., and Collin, F. S., 1989, Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8, Am. J. Hum. Genet. 44: 695–703.
Iannuzzi, M. C., Stern, R. C., Collins, F. S., Tom Hon, C., Hidaka, N., Strong, T., Becker, L., Drumm, M., White, M. B., Gerrard, B., and Dean, M., 1991, Two frameshift mutations in the cystic fibrosis gene, Am. J. Hum. Genet. 48: 227–231.
Ivaschenko, E., White, M. B., Dean, M., and Baranov, V. S., 1991, A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death, Genomics 10: 298–299.
Ivinson, A. J., Read, A. P., Harris, R., Super, M., Schwarz, M., Clayton Smith, J., and Elles, R., 1989, Testing for cystic fibrosis using allelic association, J. Med. Genet. 26: 426–430.
Jessup, W., and Dean, R. T., 1982, Lysosomal enzyme secretion by cystic fibrosis fibroblasts is normal, Clin. Chim. Acta 126: 265–273.
Jobs, A., Klein-Bolting, D., Jandel, A. S., Driesel, A., Olek, K., and Grzeschik, K.-H., 1990, Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel, Hum. Genet. 84: 147–150.
Johnson, J. P., 1988, Genetic counseling using linked DNA probes: Cystic fibrosis as a prototype, J. Pediatr. 113: 957–964.
Jorde, L. B., and Lathrop, G. M., 1988, A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers, Am. J. Hum. Genet. 42: 808–815.
Julier, C., and White, R., 1988, Detection of a Notl polymorphism with the pmetH probe by pulsed-field gel electrophoresis, Am. J. Hum. Genet. 42: 45–48.
Kaiser, R., Weber, J., Grzeschik, K.-H., Edstrom, J. E., Driesel, A., Zengerling, S., Buchwald, M., Tsui, L.-C., and Olek, K., 1987, Microdissection and microcloning of the long arm of human chromosome 7, Mol. Biol. Rep. 12: 3–6.
Kampmann, W., Mathy, L., Grzeschik, K.-H., Driesel, A. J., Bartholome, K., Neugebauer, M., and Olek, K., 1989, Prenatal diagnosis of cystic fibrosis, J. Clin. Chem. Clin. Biochem. 27: 117–122.
Kan, Y. W., and Dozy, A. M., 1978, Polymorphism of DNA sequences adjacent tot he human 0-globin structural gene: Relationship to sickle mutation, Proc. Natl. Acad. Sci. USA 75: 5631–5635.
Kane, K., 1988, Cystic fibrosis: Recent advances in genetics and molecular biology, Ann. Clin. Lab. Sci. 18: 289–296.
Kartner, N., Hanrahan, J. W., Jensen, T. J., Naismith, A. L., Sun, S., Ackenley, C. A., Reyes, E. F., Tsui, L.-C., Rommens, J. R., Bear, C. E., and Riordan, J. R., 1991, Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance, Cell 64: 681–691.
Katznelson, D., Sack, J., Frass, M., Vogt, E., and Hosli, P., 1981, Heat inactivation of plasma hydrolases as a means of discriminating between the genotypes in cystic fibrosis: The experience in Israel, Isr. J. Med. Sci. 17: 687–689.
Katznelson, D., Blau, D. H., and Sack, J., 1983, Detection of cystic fibrosis genotypes, Lancet 11: 622.
Kerem, B., Buchanan, J. A., Durie, P., Corey, M., Levison, H., Buchwald, M., and Tsui, L.-C., 1989a, DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis, Am. J. Hum. Genet. 44: 827–834.
Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., and Tsui, L.-C., 19896, Identification of the cystic fibrosis gene: Genetic analysis, Science 245: 1073–1080.
Kerem, E., Corey, M., Kerem, B., Durie, P., Tsui, L.-C., and Levison, H., 1989c, Are there clinical and genetical differences between cystic fibrosis with and without meconium ileus? J. Pediatr. 114: 767–773.
Kerem, E., Corey, M., Kerem, B., Rommens, J., Markiewicz, D., Levison, H., Tsui, L.-C., and Durie, P., 1990a, Association between the AF508 mutation and phenotypes in cystic fibrosis, N. Engl. J. Med. 323: 1517–1522.
Kerem, B., Zielenski, J., Markiewicz, D., Bozon, D., Gazit, E., Yahaf, J., Kennedy, D., Riordan, J. R., Collins, F. S., Rommens, J. R., and Tsui, L.-C., 19906, Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene, Proc. Natl. Acad. Sci. USA 87: 8447–8451.
Kidd, K. K., and Ott, J., 1984, Power and sample size in linkage analysis, Hum. Gene Mapping 7: 510–511.
King, D. N., Walsh, M. P., Heeley, A. F., and Kuzemko, J. A., 1979, Sensitive trypsin assay for dried-blood specimens as a screening procedure for early detection of cystic fibrosis, Lancet 11: 1217–1219.
Kitzis, A., Chomel, J. C., Kaplan, J. C., Giraud, G., Labbe, A., and Dastugue, B., 1988a, Unusual segregation of cystic fibrosis allele to males, Nature 336: 215.
Kitzis, A., et al. 1988, Unusual segregation of cystic fibrosis alleles, Nature 336: 316.
Klinger, K. W., 1983, Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect, Hum. Genet. 65: 94–98.
Klinger, K. W., Winsqvist, R., Riccio, A., Andreasen, P. A., Sartorio, R., Nielsen, L. S., Stuart, N., Stanislovitis, P., Watkins, P., Douglas, R., Grzeschik, K.-H., Alitalo, K., Blasi, F., and Dan;as, K., 1987, Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis, Proc. Natl. Acad. Sci. USA 84: 8548–8552.
Knowles, M., Gatzy, J., and Boucher, R., 1981, Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis, N. Engl. J. Med. 305: 1489–1495.
Knowlton, R. G., Cohen-Haguenauer, O., Nguyen, V. C., Frezal, J., Brown, V., Barker, D., Braman, J. C., Schumm, J. W., Tsui, L.-C., Buchwald, M., and Donis-Keller, H., 1985, A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7, Nature 318: 380–382.
Knudson, A. G., Wayne, L., and Hallett, W. Y., 1967, On the selective advantage of cystic fibrosis heterozygotes, Am. J. Hum. Genet. 19: 388–392.
Kobayashi, K., Knowles, M., O’Brien, W. E., and Beaudet, A. L., 1990, Benign missense variations in the cystic fibrosis gene, Am. J. Hum. Genet. 47: 611–615.
Kohlschutter, A., and Jacobsen, H., 1983, Thermostability of alpha-mannosidase in plasma from cystic fibrosis patients and carriers, FEBS Lett. 155: 223–224.
Kopelman, H., Corey, M., Gaskin, K., Durie, P., Weizman, Z., and Forstner, G., 1988, Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas, Gastroenterology 95: 349–355.
Krouse, M. E., Hagiwara, G., Chen, J., Lewiston, N. J., and Wine, J. J., 1989, Ion channels in normal human and cystic fibrosis sweat gland cells, Am. J. Physiol. 257:C 129–140.
Krawczak, M., Konecki, D. S., Schmidtke, J., Duck, M., Engel, W., Niitzenadel, W., and Trefz, F. K., 1988, Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families, Hum. Genet. 80: 78–80.
Kurz, J. B., and Perkins, J. P., 1981, Cystic fibrosis fibroblasts respond normally to isoproterenol, Pediatr. Res. 15: 1328–1333.
Kurz, J. B., Perkins, J. P., and Buchwald, M., 1979, Killing of fibroblasts by dexamethasone of dibutyryl cyclic adenosine 3′,5′-monophosphate is not a valid test for cystic fibrosis, Science 206: 1317–1319.
Lake, C. R., Davis, P. B., Zieler, M., and Kopin, I. J., 1979, Electrolytes and norepinephrine levels in blood of patients with cystic fibrosis, Clin. Chim. Acta 92: 141–146.
Lander, E. S., and Botstein, D., 1986, Consanguiity and heterogeneity: Cystic fibrosis need not be homogeneous in Italy, Am. J. Hum. Genet. 39: 282–283.
Lathrop, G. M., Farrall, M., O’Connell, P., Wainwright, B., Leppert, M., Nakamura, Y., Lench, N., Kruyer, H., Dean, M., Park, M., Vande Woude, G., Lalouel, J.-M., Williamson, R., and White, R., 1988, Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene, Am. J. Hum. Genet. 42: 38–44.
Lathrop, G. M., O’Connell, P., Leppert, M., Nakamura, Y., Farrall, M., Tsui, L.-C., Lalouel, J.-M., and White, R., 1989, Twenty-five loci form a continuous linkage map of markers for human chromosome 7, Genomics 5: 866–873.
Law, H.-Y., Stanier, P., Williamson, R., Modell, B., Ward, R. H. T., Petrou, M., Old, J., and Farrall, M., 1987, Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes, Prenat. Diagn. 7: 215–221.
Lemanske, L. F., Mischler, E. H., Farrell, P. M., Anderson, C., and Busse, W. W., 1981, Analysis of granulocyte beta-adrenergic response in cystic fibrosis: Correlation of decreased responsiveness with disease severity, Am. Rev. Respir. Dis. 123: 622–626.
Lemna, W. K., Feldman, G. L., Kerem, B., Fernbach, S. D., Zevkovich, E. P., O’Brien, W. E., Riordan, L. R., Collins, F. S., Tsui, L.-C., and Beaudet, A. L., 1990, Mutation analysis for heterozygotes detection and the prenatal diagnosis of cystic fibrosis, N. Engl. J. Med. 322: 291–296.
Leoni, G. B., Rosatelli, C., Sardu, R., Scarpa, G., Silvetti, M., and Cao, A., 1990, Molecular bases for cystic fibrosis in the Sardinian population, Hum. Genet. 85: 415.
Lerer, I., Cohen, S., Chemke, M., Sanilevich, A., Rivlin, J., Golan, A., Yahav, J., Friedman, A., and Abeleiovich, D., 1990, The frequency of the AF508 mutation on cystic fibrosis chromosomes in Israeli families: Correlation to CF haplotypes in Jewish communities and Arabs, Hum. Genet. 85: 416–417.
Li, M., McCann, J. D., Liedke, C. M., Nairn, A. C., Greengard, P., and Welsh, M. J., 1988, Cyclic AMP-dependent protein kinase opens chloride channels in normal but not in cystic fibrosis airway epithelium, Nature 331: 358–360.
Li, M., McCann, J. D., Anderson, M. P., Clancy, J. P., Liedke, C. M., Nairn, A. C., Geengard, P., and Welsh, M. J., 1989, Regulation of chloride channels by protein kinase C in normal and cystic fibrosis airway epithelia, Science 244: 1353–1356.
Liechti-Gallati, S., Braga, S., Moser, H., and Hirsiger, H., 1986, How many families will be informative for prenatal prediction of cystic fibrosis with multiple linked DNA probes?, Lancet 11: 392–393.
Lin, P., and Gruenstein, E., 1987, Identification of a defective cAMP-stimulated CI channel in cystic fibrosis fibroblasts, J. Biol. Chem. 262: 15345–15347.
Lindenbaum, R. H., Blackwell, N. L., and de Sa, D. J., 1972, A case of double aneuploidy, 47,XXY,14-,t(13ql4q) +, also probably homozygous for cystic fibrosis gene, J. Med. Genet. 9: 232–235.
Lucotte, G., Barré, E., and David, F., 1989, Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms at two DNA markers, XV-2c and KM. 19, in North African families, Am. J. Hum. Genet. 45: 635–637.
Maciejko, D., Bal, J., Mazurczak, T., te Meerman, G., Buys, C., Oostra, B., and Halley, D., 1989, Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations, Hum. Genet. 83: 220–222.
Mangos, J. A., McSherry, N. R., and Benke, P. J., 1967, A sodium transport inhibitory factor in the saliva of patients with cystic fibrosis of the pancreas, Pediatr. Res. 1: 436–442.
Mankovitz, R., Buchwald, M., and Baker, R. M., 1974, Isolation of oubain-resistant human diploid fibroblasts, Cell 3: 221–226.
Manson, J. C., and Brock, D. J. H., 1980, Development of a quantitative immunoassay for the cystic fibrosis gene, Lancet 1: 330–331.
Markovac, J., Erickson, R. P., and Hieber, V., 1981, Increased cyclic AMP levels and beta- adrenergic antagonist binding in cystic fibrosis fibroblasts, Biochem. Med. 26: 299–306.
Martin, R. K., Kaplan, G. C., Hodge, T. W., and Barker, P. E., 1988, Cystic fibrosis DNA markers in Alabama Blacks, Genomics 3: 385–388.
Martinez, J. R., Adelstein, E., Quissel, D. O., and Barbero, G. J., 1975, The chronically reserpinized rat as a possible model for cystic fibrosis. I. Submaxillary gland morphology and ultrastructure, Pediatr. Res. 9: 463–469.
Matalon, R., 1969, Discussion of H. L. Nadler: Metachromatic granules in cultivated fibroblasts derived from patients with genetic disorders, J. Pediatr. 74: 823–825.
Mathew, C. G., Roberts, R. G., Harris, A., Bentley, D. R., and Bobrow, M., 1989, Rapid screening for AF508 deletion in cystic fibrosis, Lancet 11: 1346.
Mathy, L., Kampmann, W., Higuchi, M., Schwartenbeck, G., Bartholome, K., Driesel, A. J., Grzeschik, K.-H., and Olek, K., 1987, Cystic fibrosis: Typing 48 German families with linked DNA probes, Hum. Genet. 75: 359–361.
Mattes, P. M., Maloney, P. C., and Littlefield, J. W., 1987, Altered chloride metabolism in cultured cystic fibrosis skin fibroblasts, Proc. Natl. Acad. Sci. USA 84: 3009–3013.
Mayo, B. J., Klebe, R. J., Barnett, D. R., Lankford, B. J., and Bowman, B. H., 1980, Somatic cell genetic studies of the cystic fibrosis mucociliary inhibitor, Clin. Genet. 18: 379–386.
Mayo, O., 1970, On the maintenance of polymorphisms having an inviable homozygote, Ann. Hum. Genet. 33: 307–317.
McConkie-Rosell, A., Chen, Y. T., Harris, D., Speer, M. C., Perciak-Vance, M. A., Ding, J. H., High Smith, W. E., Jr., Knowles, M., and Kahler, S. G., 1989, Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype, Ann. Intern. Med. 111: 797–801.
Mcintosh, I., Lorenzo, M. L., and Brock, D. J. H., 1989, Frequency of the AF508 mutation on CF chromosomes in UK, Lancet 11: 1404–1405.
McMillan, S. A., Hills, A. J., Graham, C. A., Nevin, N. C., and Fay, A. C., 1989, T cell receptor beta chain polymorphisms are associated with cystic fibrosis, J. Med. Genet. 26: 431–433.
McPherson, M. A., 1988, Recent advances in cystic fibrosis, J. InheritedMetab. Dis. (Suppl. 1) 1988: 94–109.
McPherson, M. A., Dormer, R. L., Dodge, J. A., and Goodchild, M. C., 1985, Adrenergic secretory responses of submandibular tissues from control subjects and cystic fibrosis patients, Clin. Chim. Acta 148: 229–237.
McPherson, M. A., Dormer, R. L., Bradbury, N. A., Dodge, J. A., and Goodchild, M. C., 1986a, Defective beta-adrenergic secretory responses in submandibular acinar cells from cystic fibrosis patients, Lancet 11: 1007–1008.
McPherson, M. A., Dormer, R. L., Dodge, J. A., and Goodchild, M. C., 1986, Biochemical basis of cystic fibrosis, Nature 323: 400.
Meisler, M. H., Spence, J. E., Dixon, J. E., Caldwell, R. M., Minth, C. D., and Beaudet, A. L., 1987, Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7, Cytogenet. Cell. Genet. 44: 175–176.
Melmer, G., Sood, R., Rommens, J., Rego, D., Tsui, L.-C., and Buchwald, M., 1990, Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization, Genomics 7: 173–181.
Mendl, R. S., 1987, Hypothesis: A selective advantage for cystic fibrosis heterozygotes, Am. J. Phys. Anthropol. 74: 39–45.
Michiels, F., Burmeister, M., and Lehrach, H., 1987, Derivation of clones close to met by preparative field inversion gel electrophoresis, Science 236: 1305–1308.
Modell, B., 1990, Cystic fibrosis screening and community genetics, J. Med. Genet. 27: 475–479.
Morin, P. R., Potier, M., Lasalle, R., Melancon, S. B., and Dallaire, L., 1983, Amniotic-fluid disaccharidases in the prenatal detection of cystic fibrosis, Lancet 11: 622–623.
Mornet, E., Simon-Buoy, B., Serre, J. C., Estivill, X., Farrall, M., Williamson, R., Bove, J., and Bove, A., 1988, Genetic difference between cystic fibrosis with and without meconium ileus, Lancet 1: 376–378.
Mornet, E., Simon-Buoy, B., Serre, J. C., Muller, F., Taillandier, A., Martinez, M., Bove, J., and Bove, A., 1989, Genetic difference between cystic fibrosis with and without meconium ileus, Lancet 1: 376–378.
Morreau, J., Sinaasappel, M., Oostra, B. A., and Halley, D. J. J., 1988, Cystic fibrosis: Screening for a DNA deletion by field inversion gel electrophoresis, Hum. Genet. 79: 64–67.
Morse, M. L., 1986, Enzyme heat inactivadon test in cystic fibrosis, Lancet 1: 625–626.
Muller, F., Aubry, M. C., Gasser, B., Duchatel, F., Boue, J., and Boue, A., 1984a, Prenatal diagnosis of cystic fibrosis. II. Meconium ileus in affected fetuses, Prenat. Diagn. 5: 109–117.
Muller, F., Berg, S., Frot, J.-F., Boue, J., and Boue, A., 1984Z?, Alkaline phosphatase isoenzyme assays for prenatal diagnosis of cystic fibrosis, Lancet 1: 572.
Mullivor, R. A., Hanning, V. L., and Harris, H., 1978, Developmental change in human intestinal alkaline phosphatase, Proc. Natl. Acad. Sci. USA 75: 3909–3912.
Mullivor, R. A., Menutti, M., and Harris, H., 1979, Origin of the alkaline phosphatases in amniotic fluid, Am. J. Obstet. Gynecol. 135: 77–81.
Mullivor, R. A., Hanning, V. L., and Harris, H., 1985, Quantitative analysis of alkaline phosphatase in serum and amniotic fluid: Comparison of biochemical and immunologic assays, /. Lab. Clin. Med. 105: 342–348.
Mullivor, R. A., Cook, D., Muller, F., Boue, A., Gilbert, F., Mennuti, M., Pergament, E., Potier, M., Nadler, H., Punnett, H., and Harris, H., 1987, Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis, J. Hum. Genet. 40: 131–146.
Murao, S., Collart, R. R., and Huberman, E., 1989, A protein containing the cystic fibrosis antigen is an inhibitor of protein kinases, J. Biol. Chem. 264: 8356–8360.
Murphy, E., Cheng, E., Yankaskas, J., Stutts, M. J., and Boucher, R. C., 1988, Cell calcium levels of normal and cystic fibrosis nasal epithelium, Pediatr. Res. 24: 79–84.
Nadler, H. L., and Walsh, M. M. J., 1980a, Intrauterine detection of cystic fibrosis, Pediatrics 66: 690–693.
Nadler, H. L., and Walsh, M. M. J., 1980Z?, Fractionation of second-trimester control and cystic fibrosis amniotic fluids: Lability of the 4-methylumbelliferyl-guanidinobenzoate- reactive protease in cystic fibrosis, Lancet 11: 96.
Nadler, H. L., Wodnicki, J. M., Swae, M. A., and O’Flynn, M. E., 1969, Cultivated amniotic-fluid cells and fibroblasts from families with cystic fibrosis, Lancet 11: 84–85.
Nadler, H. L., Rembelski, P., Meserow, K., and Gerbie, A. B., 1981a, Prenatal detection of cystic fibrosis, Am. J. Obstet. Gynecol. 141: 885–888.
Nadler, H. L., Rembelski, F., and Meserow, K. H., 1981 b, Prenatal detection of cystic fibrosis, Lancet 11: 1226–1227.
Nelson, P. V., Carey, W. F., Morris, C. P., and Pollard, A. C., 1989, Cystic fibrosis: Prenatal diagnosis and carrier detection by DNA analysis, Med. J. Aust. 151: 126–131.
Neufeld, E. F., Lim, T. W., and Shapiro, L. J., 1975, Inherited disorders of lysosomal metabolism, Annu. Rev. Biochem. 44: 357–376.
Nevin, G. B., Nevin, N. C., Redmond, A. O., Young, I. R., and Tully, G. W., 1981, Detection of cystic fibrosis homozygotes and heterozygotes by serum isoelectric focusing, Hum. Genet. 56: 387–389.
Nielson, O. H., Thompsen, B. L., Green, A., Andersen, P. K., Hauge, M., and Schitz, P. O., 1988, Cystic fibrosis in Denmark 1945 to 1985. An analysis of incidence, mortality and influence of centralized treatment on survival, Acta Paediatr. Scand. 77: 836–841.
Northrup, H., Rosenbloom, C., O’Brien, W. E., and Beaudet, A. L., 1989, Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification, Nucleic Acids Res. 17: 1784.
Novelli, N., Gasparini, P., Savoia, A., Pignatti, P. F., Sangiuolo, F., and Dallapiccola, B., 1990. Polymorphic DNA haplotypes and AF508 deletion in 212 Italian CF families, Hum. Genet. 85: 420–421.
Nugent, C. E., Gravius, T., Green, P., Larsen, J. W., Jr., MacMillin, M. D., and Donis-Keller, H., 1988, Prenatal diagnosis of cystic fibrosis by chorionic villus sampling using polymorphic deoxyribonucleic acid markers, Obstet. Gynecol. 71: 213–215.
Ober, C., Bombard, A., Dhaliwal, R., Elias, S., Fagan, J., Laffer, T. G., Martin, A. O., and Rosinsky, B., 1987, Studies of cystic fibrosis in Hutterite families by using linked DNA probes, Am. J. Hum. Genet. 41: 1145–1151.
Odink, K., Cerletti, N., Bruggen, J., Clerc, R. G., Tarcsay, L., Zwadlo, G., Gerhards, G., Schlegel, R., and Sorg, C., 1987, Two calcium-binding proteins in infiltrate macrophages of rheumatoid arthritis, Nature 330: 80–82.
O’Rawe, A., Dodge, J. A., Redmond, A. O. B., Mcintosh, I., and Brock, D. J. H., 1990, Gene/energy interaction in cystic fibrosis, Lancet 335: 552–553.
Orenstein, D. M., Boat, T. F., Stern, R. C., Tucker, A. S., Charnock, E. L., Matthews. L. W., and Doershuk, C. F., 1977, The effect of early diagnosis and treatment on progression of the pulmonary disease in cystic fibrosis, Am. J. Dis. Child. 131: 973–975.
Orlando, R. C., Powell, D. W., Croom, R. D., Bernschneider, H. M., Boucher, R. C., and Knowles, M. R., 1988, Colonic and esophageal transepithelial potential difference in cystic fibrosis, Gastroenterology 96: 1041–1048.
Osborne, L., Knight, R. A., Santis, G., and Hodson, M., 1991, A non-conservative mutation in the second nucleotide binding fold of the cystic fibrosis transmembrane regulator, Am. J. Hum. Genet. 48: 608–612.
Papp, Z., Toth, Z., Szabo, M., and Szeifert, G. T., 1985, Early prenatal diagnosis of cystic fibrosis by ultrasound, Clin. Genet. 28: 356–358.
Park, M., Testa, J. R., Blair, D. G., Parsa, N. Z., and Vande Woude, G. F., 1988, Two rearranged MET alleles in MNNG-HOS cells reveal the orientation of MET on chromosome 7 to other markers tightly linked to the cystic fibrosis locus, Proc. Natl. Acad. Sci. USA 85: 2667–2671.
Parsons, M., and Romeo, G., 1980, Cystic fibrosis alpha-2-macroglobulin protease interaction in vitro, Clin. Cffim. Acta 100: 215–224.
Patrick, A. D., and Ellis, R. B., 1979, Plasma hydrolases in cystic fibrosis, Lancet 11: 1015–1016.
Patton, M. A., Harris, A., Quinlan, C., and Newton, R., 1987, Use of DNA markers linked to cystic fibrosis gene to resolve equivocal sweat test results, Lancet 11: 155–156.
Pembrey, M. E., and Malcolm, S., 1986, Genetic prediction of cystic fibrosis, Nature 320: 114.
Porteous, D. J., Dorin, J. R., Wilkinson, M. M., Fletcher, J. M., Emslie, E., and van Heyningen, V., 1990, SV40-mediated tumor selection and chromosome transfer to enrich for cystic fibrosis region, Soma. Cell Mol. Genet. 16: 29–38.
Poustka, A., Lehrach, H., Williamson, R., and Bates, G., 1988, A long-range restriction map encompassing the cystic fibrosis locus and its closely linked genetic markers, Genomics 2: 337–345.
Pritchard, D. J., 1987, Why cystic fibrosis is on the increase, Nature 330: 319.
Pritchard, D. J., Hickman, G. R., and Nelson, R., 1983, Sex ratio and heterozygote advantage in cystic fibrosis families, Arch. Dis. Child. 58: 290–293.
Quinton, P. M., 1982, Suggestion of a normal anion exchange mechanism in sweat glands of cystic fibrosis patients, Pediatr. Res. 16: 533–537.
Quinton, P. M., 1983, Chloride impermeability in cystic fibrosis, Nature 301: 421–422.
Quinton, P. M., 1986, Missing CI conductance in cystic fibrosis, Am. J. Physiol. 251: C649–C652.
Quinton, P. M., 1990, Cystic fibrosis: A disease in electrolyte transport, FASEB J. 4: 2709–2717.
Quinton, P.M., and Bijman, J., 1983, Higher bioelectric potentials due to decreased chloride absorption in the sweat glands of patients with cystic fibrosis, N. Engl. J. Med. 308: 1185–1189.
Ramsay, M., Wainwright, B. J., Farrall, M., Estivill, X., Sutherland, H., Ho, M.-F., Davies, R., Halford, S., Tata, F., Wicking, C., Lench, N., Bauer, I., Ferec, C., Farndon, P., Kruyer, H., Stanier, P., Williamson, R., and Scambler, P. J., 1990, A new polymorphic locus, D7S411, isolated by cloning from preparative pulsed-field gels is close to the mutation causing cystic fibrosis, Genomics 6: 39–47.
Rao, G. J. S., and Nadler, H. L., 1972, Deficiency of trypsin-like activity in saliva of patients with cystic fibrosis, Pediatr. 80: 573–576.
Rao, G. J. S., and Nadler, H. L., 1974, Arginine esterase in cystic fibrosis of the pancreas, Pediatr. Res. 8: 684–686.
Rao, G. J. S., and Nadler, H. L., 1975, Deficiency of arginine esterase in cystic fibrosis of the pancreas: Demonstration of the proteolytic nature of the activity, Pediatr. Res. 9: 739–741.
Rao, G. J. S., Posner, L. A., and Nadler, H. L., 1972, Deficiency of kallikrein activity in plasma of patients with cystic fibrosis, Science 177: 610–611.
Rao, G. J. S., Walsh Piatt, M., and Nadler, H. L., 1978, Reaction of 4-methylumbelliferyl guanidinobenzoate with proteases in plasma of patients with cystic fibrosis, Enzyme 23: 314–319.
Read, A. P., 1987, Principles of DNA-based prenatal diagnosis of cystic fibrosis: An introduction for clinician, J. R. Soc. Med. 80: 9–12.
Reed, G. B., Bain, A. D., McRae, W. M., and Scott, F. M., 1970, Cellular metachromasia in cystic fibrosis, J. Pathol. 101: 251–257.
Restagno, G., Garnerone, S., Gennero, C., Varetto, O., Ansaldi, N., Castello, D., Santini, B., and Carbonella, A. O., 1990, AF508 deletion in cystic fibrosis in Italian families, Hum. Genet. 85: 422–423.
Rich, D. R., Anderson, M. P., Gregory, R. J., Cheng, S. H., Paul, S., Jefferson, D. M., McCann, J. D. M., Klinger, K. W., Smith, A. E., and Welsh, M. J., 1990, Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells, Nature 347: 358–363.
Ringe, D., and Pestko, G., 1990, Cystic fibrosis: A transport problem? Nature 346: 312–313.
Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., Grzelchak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M. L., Iannuzzi, M. C., Collin, F. S., and Tsui, L.-C., 1989, Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA, Science 245: 1066–1073.
Roberts, L., 1990, To test or not to test?, Science 247: 17–19.
Romeo, G., Parsons, M., Bossen, A., Blessing-Moore, J., and Cavalli-Sforza, L., 1978, Trypsin-binding IgG in cystic fibrosis, Nature 274: 909–911.
Romeo, G., Parsons, M., Bossen, A., Blessing-Moore, J., and Cavalli-Sforza, L. L., 1979, Binding of 125I-labeled proteinases to plasma proteins in cystic fibrosis, Pediatr. Res. 13: 1030–1036.
Romeo, G., Denaro, M., and Parsons, M., 1980, Competition for trypsin binding between alpha-2-macroglobulin and antitrypsin antibodies in cystic fibrosis, J. Lab. Clin. Med. 95: 116–124.
Romeo, G., Bianco, M., Devoto, M., Menozzi, P., Mastella, G., Giunta, A. M., Micalizzi, C., Antonelli, M., Battistini, A., Santamaria, F., Castello, D., Marianelli, A., Marchi, A. G., Manca, A., and Miano, A., 1985, Incidence in Italy, genetic heterogenity, and segregation analysis of cystic fibrosis, Am. J. Hum. Genet. 37: 338–349.
Romeo, G., Devoto, M., and Bianco, M., 1986, Homogeneity vs. heterogeneity of cystic fibrosis in Italy, Am. J. Hum. Genet. 39: 283–284.
Romeo, G., Galietta J. L. V., and Devoto, M., 1989, Why is the CF gene so frequent?, Hum. Genet. 84: 1–5.
Rommens, J. M., Zengerling, S., Burns, J., Melmer, G., Kerem, B., Plavsic, N., Zsiga, M., Kennedy, D., Markiewicz, D., Rozmahel, R., Riordan, J. R., Buchwald, M., and Tsui, L.-C., 1988, Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene, Am. J. Hum. Genet. 43: 645–663.
Rommens, J. M., Iannuzzi, M. C., Kerem, B., Melmer, G., Drumm, M. L., Melmer, G., Dean, M., Rozmahel, R., Cole, J. L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J. R., Tsui, L.-C., and Collins, F. S., 1989a. Identification of the cystic fibrosis gene: Chromosome walking and jumping, Science 245: 1059–1065.
Rommens, J. M., Zengerling-Lentes, S., Kerem, B., Melmer, G., Buchwald, M., and Tsui, L.-C., 1989bt Physical localization of two DNA markers closely linked to the cystic fibrosis gene by pulsed field gel electrophoresis, Am. J. Hum. Genet. 45: 932–941.
Rommens, J., Kerem, B., Greer, W., Chang, P., Tsui, L.-C., and Ray, P., 1990, Rapid non-radioactive detection of the major CF mutation, Am. J. Hum. Genet. 45: 395–396.
Rommens, J. M., Dho, S., Bear, C. E., Kartner, N., Kennedy, D., Riordan, J. R., Tsui, L.-C., and Foskett, J. K., 1991, Cyclic-AMP-inducible chloride conductance in mouse fibroblast lines stably expressing human cystic fibrosis transmembrane conductance regulator (CFTR), Proc. Natl. Acad. Sci. USA 88:in press.
Rosenbloom, C. L., Kerem, B., Rommens, J. M., Tsui, L.-C., Wainwright, B., Williamson, R., O’Brien, W. E., and Beaudet, A. L., 1989. DNA amplification for detection of the XV-2C polymorphism linked to cystic fibrosis, Nucleic Acids Res. 17: 17.
Rozen, R., Schwartz, R. H., Hilman, B. C., Stanislovitis, P., Horn, T., Klinger K., Daigneault, J., de Braekeleer, M., Kerem, B., Tsui, L.-C., Fujiwara, T. M., and Morgan, K., 1990, Cystic fibrosis mutation in North America populations of French Ancestry: Analysis of Quebec French-Canadian and Louisiana Acadian families, Am. J. Hum. Genet. 47: 606–610.
Rubin, L. S., Barbero, G. J., and Chernick, W. S., 1966, Pupillary dysfunction as a concomitant of cystic fibrosis, Pediatrics 38: 865–873.
Rutenberg, A. M., Goldberg, J. A., and Pineda, E. P., 1963, Serum-glutamyl transpeptidase activity in hepatobiliary pancreatic disease, Gastroenterology 45: 43–48.
Sack, J., Katznelson, D., Frass, M., and Stur, O. B., 1980, Heat inactivation of plasma hydrolases in cystic fibrosis, Lancet 11: 268.
Sangiuolo, F., Novelli, G., Murru, S., and Dallapiccola, B., 1991, A serine to arginine (AGT to CTG) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis, Genomics, in press.
Sanguinetti-Briceno, N. R., and Brock, D. J. H., 1982, NADH dehydrogenase in cystic fibrosis, Clin. Genet. 22: 308–311.
Santis, G., Osbourne, L., Knight, R. A., and Hodson, M. E., 1990, Linked marker haplotypes and the AF508 mutation in adults with mild pulmonary disease and cystic fibrosis, Lancet 1: 1426–1429.
Sato, K., 1984, Differing luminal potential difference of cystic fibrosis and control sweat secretory coils in vitro, Am. J. Physiol. 247: R646–R649.
Sato, K., and Sato, F., 1984, Defective beta adrenergic response of cystic fibrosis sweat glands in vivo and in vitro, J. Clin. Inv. 73: 1763–1771.
Sauder, R. A., Chesrown, S. E., and Loughlin, G. M., 1987, Clinical application of transepithelial potential difference measurements in cystic fibrosis, J. Pediatr. 111: 353–358.
Scambler, P., Robbins, T., Gilliam, C., Boylston, A., Tippett, P., Williamson, R., and Davies, K. E., 1985a, Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis, Hum. Genet. 69: 250–254.
Scambler, P. J., Wainwright, B. J., Farrall, M., Bell, J., Stanier, P., Lench, N. J., Bell, G., Kruyer, H., Ramirez, F., and Williamson, R., 1985b, Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications, Lancet ii: 1241–1242.
Scambler, P. J., Wainwright, B. J., MacGillivray, R. T. A., Fung, M. R., and Williamson, R., 1986a, Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation, Am. J. Hum. Genet. 38: 567–572.
Scambler, P. J., Bell, G., Watson, E., Farrall, M., Bates, G., Davies, K., Lench, N., Ashworth, A., Williamson, R., Tippett, P., and Wainwright, B., 19866, Cystic fibrosis linkage exclusion data, Cytogenet. Cell Genet. 41: 62–63.
Scambler, P. J., Wainwright, B. J., Watson, E., Bates, E., Bell, G., Williamson, R., and Farrall, M., 1986c, Isolation of a further anonymous informative DNA sequence from chromosome 7 closely linked to cystic fibrosis, Nucleic Acids Res. 14: 1951–1956.
Scambler, P. J., Law, H.-Y., Williamson, R., and Cooper, C. S., 1986d, Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven, Nucleic Acids Res. 14: 7159–7174.
Scambler, P. J., McPherson, M. A., Bates, G., Bradbury, N. A., Dormer, R. L., and Williamson, R., 1987a, Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis, Hum. Genet. 76: 278–282.
Scambler, P. J., Estivill, X., Bell, G., Farrall, M., McLean, C., Newman, R., Little, P. F. R., Frederick, P., Hawley, K., Wainwright, B. J., Williamson, R., and Lench, N. J., 19876, Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus, Nucleic Acids Res. 15: 3639–3652.
Scambler, P. J., Wainwright, B., Ramsay, M., Marrall, M., Bates, G., Ho, M. F., and Cooper, C., 1990, Analysis of the trangenome of MET transfectant cell lines reveals the MET activation is accompanied by an interstitial insertion, Hum. Genet. 84: 274–278.
Schaap, T., and Cohen, M. M., 1976, A proposed model for the inheritance of cystic fibrosis, in: Cystic Fibrosis: Projections into the Future ( J. A. Mangos and R. C. Talamo, eds.), Stratton, New York, pp. 291–303.
Scheffer, H., Verlind, E., Penninga, D., te Meerman, G., ten Kate, L., and Buys, C., 1989, Rapid screening for AF508 detection in cystic fibrosis, Lancet 11: 1345–1346.
Schidlow, D. V., and Kueppers, F., 1980, Trypsin binding activity of alpha-2-macroglobulinin cystic fibrosis and other lung diseases, Am. Rev. Respir. Dis. 121: 31–37.
Schmidtke, J., and Krawczak, M., 1989, Sex difference in D758 marker allele distribution in adult cystic fibrosis patients, Lancet 1: 383.
Schmidtke, J., Krawczak, M., Schwartz, M., Alkan, M., Bonduelle, M., Büchler, E., Chemke, M., Darnedde, T., Domagk, J., Engel, W., Frey, D., Fryburg, K., Halley, D., Hundrieser, J., Ladanyi, L., Libaers, I., Lissens, W., Mächler, M., Malik, N. J., Morreau, J., Neubauer, V., Oostra, B., Pape, B., Poncin, J. E., Schinzel, A., Simon, P., Trefz, F. K., Tümmler, B., Vassart, G., and Ross, R., 1987, Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci, Hum. Genet. 76: 337–343.
Schmiegelow, K., Eiberg, H., Tsui, L.-C., Buchwald, M., Phelan, P. D., Williamson, R., Warwick, W., Niebuhr, E., Mohr, J., Schwartz, M., and Koch, C., 1986, Linkage between the loci for cystic fibrosis and paraoxonase, Clin. Genet. 29: 374–377.
Schoumacher, R. A., Shoemaker, R. L., Halm, D. R., Tallant, E. A., Wallace, R. W., and Frizzell, R. A., 1987, Phosphorylation fails to activate chloride channels from cystic fibrosis airway cells, Nature 330: 752–754.
Schwart, M., 1982, A serine protease activity of human serum albumin towards 4-methyl- umbelliferyl-guanidinobenzoate (MUGB) and diisopropyl fluorophosphate (DFP): Implications for the use of MUGB reactivity in amniotic fluid in prenatal diagnosis of cystic fibrosis, Clin. Chim. Acta 124: 213–223.
Schwartz, M., and Brandt, N. J., 1981, False negative results with methylumbelliferyl guanidinobenzoate reactive proteases in cystic fibrosis pregnancies, Lancet 11: 1226.
Schwartz, M., Johansen, H. K., Kock, C., and Brandt, N. J., 1990, Frequency of the AF508 mutation on cystic fibrosis chromosomes in Denmark, Hum. Genet. 85: 427–428.
Schwarz, M., Super, M., Schmidtke, J., Buys, C., Farrall, M., Halley, D., Krawczak, M., Poncin, J. E., Loukopoulos, D., and Devoto, ML, 1988, Prenatal diagnosis of cystic fibrosis using linked DNA probes, Prenat. Diagn. 8: 619–624.
Schwarz, M., Summers, C., Heptinstall, L., Newton, C., Markham, A., and Super, M., 1990, A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: AI507, in: The Identification of the CF (Cystic Fibrosis) Gene: Recent Progress and New Research Strategies ( L. C. Tsui, G. Romeo, R. Gregor, and S. Gorini, eds.), Plenum Press, New York, pp. 393–398.
Seale, T. W., and Rennert, O. M., 1977, Reduced plasma protease activity in patients with cystic fibrosis, Pediatr. Res. 11: 463.
Sebastio, G., Castiglione, O., Incerti, B., Salvatore, D., and Santamaria, F., 1990, The AF508 mutation in cystic fibrosis patients of southern Italy, Hum. Genet. 85: 430–431.
Serre, J. L., Simon-Buoy, B., Mornet, E., Jaume-Roig, B., Lalassopoulou, A., Schwartz, M., Taillandier, A., Boue, J., and Boue, A., 1990, Studies of RFLP closely linked to new considerations in population genetics, Hum. Genet. 84: 449–454.
Shapira, E., and Menendez, R., 1980, Increased binding of concanavalin A to alpha-2- macroglobulin, IgM and IgG from cystic fibrosis plasma, Biochem. Biophys. Res. Commun. 93: 50–56.
Shapira, E., Ben-Yoseph, Y., and Nadler, H. L., 1976a, Decreased formation of alpha2- macroglobulin-protease complexes in plasma of patients with cystic fibrosis, Biochem. Biophys. Res. Commun. 71: 864–870.
Shapira, E., Rao, G. J. S., Wessel, H. U., and Nadler, H. L., 19766, Absence of an alpha2-macroglobulin-protease complex in cystic fibrosis, Pediatr. Res. 10: 812–817.
Shapira, E., Martin, C. L., and Nadler, H. L., 1977a, Comparison between purified alpha2-macroglobulin preparations from normal controls and patients with cystic fibrosis, J. Biol. Chem. 252: 7923–7929.
Shapira, E., Ben-Yoseph, Y., and Nadler, H. L., 19776, Abnormal breakdown of alpha-2- macroglobulin-trypsin complex in cystic fibrosis, Clin. Chim. Acta 78: 359–363.
Shapiro, B. L., 1989, Evidence for a mitochondrial lesion in cystic fibrosis, Life Sci. 44: 1327–1334.
Shapiro, B. L., Feigal, R. J., and Lam, L. F.-H., 1979, Mitochondrial NADH dehydrogenase in cystic fibrosis, Proc. Natl. Acad. Sci. USA 76: 2979–2983.
Shapiro, B. L., Lam, L. F.-H., and Feigal, R. J., 1982, Mitochondrial NADH-dehydrogenase in cystic fibrosis: Enzyme kinetics in cultured fibroblasts, Am. J. Hum. Genet. 34: 846–852.
Shier, W. T., 1979, Increased resistence to influenza as a possible source of heterozygote advantage in cystic fibrosis, Med. Hypotheses 5: 661–668.
Shori, D. K., Bradbury, N. A., Goodchild, M. C., Dormer, R. L., and McPherson, M. A., 1988, An altered calmodulin binding protein in cystic fibrosis—A clue to the basic defect, Clin. Chim. Acta 174: 283–290.
Shori, D. K., Dormer, R. L., Goodchild, M. C., and McPherson, M. A., 1989, Defective phosphorylation of a calmodulin-binding protein in cystic-fibrosis submandibular glands, Biochem. J. 263: 613–616.
Simon, P., Brocas, H., Baran, D., van Geffel, R., Rodesch, F., and prediction of cystic fibrosis in 36 families by means of restriction fragment length polymorphism, Eur. J. Paediatr. 147: 199–201.
Simon-Bouy, B., Serre, J. L., Mornet, E., Tallandier, A., Bove, J., and Bove, A., 1989, Genetic heterogeneity between 2 clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes, Clin. Genet. 35: 81–87.
Spence, J. E., Rosenbloom, C. L., O’Brien, W. O., Seilheimer, D. K., Cole, S., Ferrell, R. E., Stern, R. C., and Beaudet, A. L., 1986, Linkage of DNA markers to cystic fibrosis in 26 families, Am. J. Hum. Genet. 39: 729–734.
Spence, J. E., Buffone, G. J., Rosenbloom, C. L., Fernbach, S. D., Curry, M. R., Carpenter, R. J., Ledbetter, D. H., O’Brien, W. E., and Beaudet, A. L., 1987, Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis, Hum. Genet. 76: 5–10.
Spence, J. E., Perciaccante, R. G., Grieg, G. M., Willard, H. F., Ledbetter, D. H., Hejtmancik, J. F., Pollack, M. S., O’Brien, W. E., and Beaudet, A. L., 1988, Uniparental disomy as a mechanism for human genetic disease, Am. J. Hum. Genet. 42: 217–226.
Spicer, S. S., Di Sant’Agnese, P. A., Vincent, R. A., and Ulane, M., 1980, Ultrastructural and cytochemical comparison of cultured normal and cystic fibrosis fibroblasts, Exp. Mol. Pathol. 33: 104–121.
Spöck, A., 1969, Cystic fibrosis, current theories concerning the pathogenesis, Minn. Med. 52: 1429–1432.
Spöck, A., Heick, H. M., Cress, H., and Logan, W. S., 1967, Abnormal serum factor in patients with cystic fibrosis of the pancreas, Pediatr. Res. 1: 173–177.
Stanier, P., Estivill, X., Lench, N., and Williamson, R., 1988, Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus, Hum. Genet. 80: 309–310.
Steinberg, A. G., and Morton, N. E., 1956, Sequential test for linkage between cystic fibrosis of the pancreas and the MNS locus, Am. J. Hum. Genet. 8: 177–189.
Steinberg, A. G., Shwachman, H., Allan, F. H., Jr., and Dooley, R. R., 1956, Linkage studies with cystic fibrosis of the pancreas, Am. J. Hum. Genet. 8: 162–176.
Strain, L., Curtis, A., Mennie, M., Holloway, S., and Brock, D. J. H., 1988, Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis, Hum. Genet. 80: 75–77.
Strong, T. V., Koh, J., Tsui, L.-C., and Collins, F. S., 1990, Analysis of CFTR transcription, Pediatr. Pulmonol. (Suppl.) 5: 195.
Stuart, A. B., and Burdon, M. G., 1974, Frequency of the cystic fibrosis gene, Lancet ii: 1521.
Stuhrman, M., Macek, M., Jr., Reiss, A., Schmidtke, J., Tümmler, B., Dörk, T., Vavrova, V., Macek, M., and Krawczak, M., 1990, Genotype analysis of cystic fibrosis patient in relation to pancreatic sufficiency, Lancet 1: 738–739.
Stutts, M. J., Knowles, M. R., Gatzy, J. T., and Boucher, R. C., 1986, Oxygen consumption and ouabain binding sites in cystic fibrosis nasal epithelium, Pediatr. Res. 20: 1316–1320.
Super, M., 1975, Cystic fibrosis in the South West African Afrikaner, S. Afr. Med. J. 49: 818–820.
Super, M., 1977, Heterozygote disadvantage in cystic fibrosis, Lancet ii:1288.
Super, M., 1987, Genetic counselling and antenatal diagnosis of cystic fibrosis, J. R. Soc. Med. 80: 13–15.
Super, M., and van Schalkwyk, D. J., 1979, Heterozygote advantage in cystic fibrosis: Mosquito tests, Clin. Genet. 16: 65–68.
Super, M., Schwarz, M., Elles, R. G., Ivinson, A., Giles, L., Read, A. P., and Harris, R., 1987, Clinical experience of prenatal diagnosis of cystic fibrosis by use of linked DNA probes, Lancet 11: 782–784.
Syman, D. N. K., Russell, G., Couzin, D. A., and Stewart, L., 1984, Cystic fibrosis and chromosome abnormalities, Lancet ii:1070.
Tabcharani, J. A., Low, W., Elie, D., and Hanrahan, J. W., 1990, Low-conductance chloride channel activated by cAMP in the epithelial cell line T84, FEBS Lett. 270: 157–164.
Tata, F., Stanier, P., Wicking, C., Halford, S., Kruyer, H., Lench, N. J., Scambler, P. J., Hansen, C., Braman, J. C., Williamson, R., and Wainwright, B. J., 1991, Cloning the mouse homologous of the human cystic fibrosis transmembrane conductance regulator gene, Genomics 10: 301–307.
Taussig, L. M., and Gardner, J. D., 1972, Effects of saliva and plasma from cystic fibrosis patients on membrane transport, Lancet 1: 1368–1369.
Taylor, C. J., Baxter, P. S., Hardcastle, J., and Hardcastle, P. T., 1988, Failure to induce secretion in jejunal biopsies from children with cystic fibrosis, Gut 29: 957–962.
Taysi, K., Kistenmacher, M. L., Punnett, H. H., and Mellman, W. J., 1970, Limitations of metachromasia as a diagnostic aid in pediatrics, N. Engl. J. Med. 281: 1108–1111.
Te Meerman, G. J., Buys, C. H. C. M., 1989, Remarks on the article “Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis” by L. Strain et al., Hum. Genet. 82: 96–97.
Te Meerman, G. J., ten Kate, L. P., Cobben, J. M., van Essen, T., Buys, C. H. C. M., and Halley, D., 1988, Prenatal diagnosis in cystic fibrosis families where the single affected child has died, Lancet 11: 745.
ten Kate, L. P., 1977, A method for analysing fertility of heterozygotes for autosomal recessive disorders, with specia, reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria, Ann. Hum. Genet. 40: 287–297.
ten Kate, L. P., te Meerman, G. J., Buys, C. H. C. M., Halley, D. J. J., and Oostra, B., 1988, Cystic fibrosis allele segregation; Nature 334 :20.
ten Kate, L. P., and Tijimstra, T. J., 1989, Carrier screening for cystic fibrosis, Lancet 11: 973–974.
The Cystic Fibrosis Genetic Analysis Consortium, 1990, Worldwide survey of the AF508 mutation—Report from the Cystic Fibrosis Genetic Analysis Consortium, Am. J. Hum. Genet. 47: 354–359.
Thomas, J. M., Merritt, A. D., and Hodes, M. E., 1977, Electrophoretic analysis of serum proteins in cystic fibrosis, Pediatr. Res. 11: 1148–1154.
Thomas, P. J., Shenbagmurthi, P., Ysern, X., and Pedersen, P. L., 1991, Cystic fibrosis transmembrane conductance regulator: Nucleotide binding to a synthetic peptide, Science 251: 255–257.
Thompson, M. W., 1980, Genetics of cystic fibrosis, in: Perspectives in Cystic Fibrosis ( J. M. Sturgess, ed.), Cystic Fibrosis Foundation, Toronto, pp. 281–291.
Tsui, L.-C., 1989, Tracing the mutations in cystic fibrosis with closely linked DNA markers (invited editorial), Am. J. Hum. Genet. 44: 303–306.
Tsui, L.-C., and Buchwald, M., 1988, No evidence for genetic heterogeneity in cystic fibrosis, Am. J. Hum. Genet. 42: 184.
Tsui, L.-C., Buchwald, M., Barker, D., Braman, J. C., Knowlton, R. G., Schumm, J., Eiberg, H., Mohr, J., Kennedy, D., Plavsic, N., Zsiga, M., Markiewicz, D., Akots, G., Brown, V., Helms, C., Gravius, T., Parker, C., Rediker, K., and Donis-Keller, H., 1985a, Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker, Science 230: 1054–1057.
Tsui, L.-C., Cox, D. W., McAlpine, P. J., and Buchwald, M., 19856, Cystic fibrosis: Analysis of linkage of the disease locus to red cell and plasma protein markers, Cytogenet. Cell Genet. 39: 238–239.
Tsui, L.-C., Zsiga, M., Kennedy, D., Plavsic, N., Markiewicz, D., and Buchwald, M., 1985c, Cystic fibrosis: Progress in mapping the disease locus using polymorphic DNA markers. I, Cytogenet. Cell Genet. 39: 299–301.
Tsui, L.-C., Buetow, K., and Buchwald, M., 1986a, Genetic analysis of cystic fibrosis using linked DNA markers, Am. J. Hum. Genet. 39: 720–728.
Tsui, L.-C., Zengerling, S., Willard, H. F., and Buchwald, M., 1986ft, Mapping of the cystic fibrosis locus on chromosome 7, Cold Spring Harbor Symp. Quant. Biol. 51: 325–335.
Tummler, B., Seger, E., and Riordan, J. R., 1982, Systematic study of the hydrolysis of 4-methylumbelliferyl guanidinobenzoate in plasma from patients with cystic fibrosis and controls, Clin. Chim. Acta 125: 219–232.
Tummler, B., Aschendorf, A., Darnedde, T., and Hundreiser, J., 1988, Segregation of cystic fibrosis allele, Nature 334: 110.
Van der Hout, A. H., van der Veen, A. Y., Aten, J. A., and Buys, C. H. C., 1988, Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion, Hum. Genet. 80: 161–164.
Van Diggelen, O. P., Janse, H. C., and Kleijer, W. J., 1983, Disaccharidases in amniotic fluid as possible prenatal marker for cystic fibrosis, Lancet 1: 817.
Van Heyningen, V., Hayward, C., Fletcher, J., and McAuley, C., 1985, Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene, Nature 315: 513–515.
Vickers, M. F., Curnow, R. N., and Tarnoky, A. L., 1982, Failure to confirm the diagnostic value of a cystic fibrosis protein method, Ann. Clin. Biochem. 19: 442–443.
Vidaud, M., Kitzis, A., Ferec, C., Bozon, D., Dumur, V., Giraud, G., David, F., Pascal, O., Auvinet, M., Morel, Y., Andre, J., Chomel, J. C., Saleun, J. P., Farriaux, J. P., Roussel, P., Labbe, A., Dastugue, B., Lucotte, G., Monnier, N., Foucaud, P., Goossens, M., Feingold, J., and Kaplan, J. C., 1989, Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele a; KM-19, allele 2) and cystic fibrosis allele in the French population, Hum. Genet. 81: 183–184.
Vidaud, M., Fanen, P., Martin, J., Ghanem, N., Nicolas, S., and Goossens, M., 1990, Three mutations in the CFTR gene in French cystic fibrosis patients: Identification by denaturing gradient gel electrophoresis, Hum. Genet. 85: 446–449.
Von Ruecker, A. A., Bertele, R., and Harms, H. K., 1984, Calcium metabolism and cystic fibrosis: Mitochondrial abnormalities suggest a modification of the mitochondrial membrane, Pediatr. Res. 18: 594–599.
Voss, R., Ben-Simon, E., Avital, A., Godfrey, S., Zlotogora, J., Dagan, J., Tikochinski, Y., and Hillel, J., 1989, Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?, Am. J. Hum. Genet. 45: 373–380.
Wagner, M., Schloesser, M., and Reiss, J., 1990, Direct gene diagnosis of cystic fibrosis by allele specific polymerase chain reaction, Mol. Biol. Med. 7: 359–364.
Wainwright, B. J., and Scambler, P. J., 1988, The molecular genetics of cystic fibrosis, in: ISI Atlas of Science: Biochemistry, ISI, pp. 77–80.
Wainwright, B. J., Scambler, P. J., Schmidtke, J., Watson, E. A., Law, H.-Y., Farrall, M., Cooke, H. J., Eiberg, H., and Williamson, R., 1985, Localization of cystic fibrosis locus to human chromosome 7cen-q22, Nature 318: 384–385.
Wainwright, B., Farral, M., Watson, E., and Williamson, R., 1986a, A model system for the analysis of gene exclusion: Cystic fibrosis and chromosome 19, J. Med. Genet. 23: 417–420.
Wainwright, B., Scambler, P., Farrall, M., Schwartz, M., and Williamson, R., 1986ft, Linkage between the cystic fibrosis locus and markers on chromosome 7q, Cytogenet. Cell Genet. 41: 191–192.
Wainwright, B. J., Scambler, P. J., and Williamson, R., 1987a, Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis, Cytogenet. Cell Genet. 44: 101–102.
Wainwright, B. J., Tsui, L.-C., Leppert, M., Buchwald, M., Estivill, X., O’Connell, P., Lathrop, M., Lalouel, J.-M., White, R., Williamson, R., and Farrall, M., 1987ft,
Linkage of DNA probe B79a (D7S13) to cystic fibrosis, Am. J. Hum. Genet. 41:944–847.
Wainwright, B. J., Scambler, P. J., Stanier, P., Watson, E. K., Bell, G., Wicking, C., Estivill, X., Courtney, M., Boue, A., Pederson, P. S., Williamson, R., and Farrall, M., 1988, Isolation of a human gene with protein sequence similar to human and murine int-l and the Drosophila segment polarity mutant wingless, EMBO J. 7: 1743–1748.
Walsh, M. M. J., and Nadler, H. L., 1980, Methylumbelliferylguanidinobenzoate-reactive proteases in human amniotic fluid: Promising marker for the intrauterine detection of cystic fibrosis, Am. J. Obstet. Gynecol. 137: 978–982.
Waters, D. L., Dorney, S. F. A., Gaskin, K. J., Gruca, M. A., O’Halloran, M., and Wilcken, B., 1990, Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program, N. Engl. J. Med. 322: 303–308.
Watkins, P. C., Eddy, R., Hoffman, N., Stanislovitis, P., Beck, A. K., Galli, J., Vellucci, V., Gusella, J. F., and Shows, T. B., 1986, Regional assignment of the erythropoietin gene to human chromosome region 7pter-q22, Cytogenet. Cell Genet. 42: 214–218.
Weber, J., Aulehla-Scholz, C., Kaiser, R., Eigel, A., Neugebauer, M., Horst, J., and Olek, K., 1988, Cystic fibrosis: Typing 89 families with linked DNA probes, Hum. Genet. 81: 54–56.
Weber, J., Weith, A., Kaiser, R., Grzeschik, K.-H., and Olek, K., 1990, Microdissection and microcloning of human chromosome 7q22-32 region, Somat. Cell Mol. Genet. 16: 123–128.
Weichselbaum, R. R., Little, J. B., Nove, J., Hellman, S., and Piro, A. J., 1980, Lack of selective killing by steroids in normal and malignant cells, J. Cell. Physiol. 103: 429–433.
Weir, B. S., 1989, Locating the cystic fibrosis gene on the basis of linkage disequilibrium with markers? Prog. Clin. Biol. Res. 329: 81–86.
Welsh, M. J., 1990, Abnormal regulation of ion channels in cystic fibrosis epithelia, FASEB J. 4: 2718–2725.
Welsh, M. J., and Fick, R. B., 1987, Cystic fibrosis, J. Clin. Inv. 80: 1523–1526.
Welsh, M. J., and Liedke, C. M., 1986, Chloride and potassium channels in cystic fibrosis airway epithelia, Nature 322: 467–470.
White, M. B., Amos, J., Hsu, J. M. C., Gerrard, B., Finn, P., and Dean, M., 1990, A frame-shift mutation in the cystic fibrosis gene, Nature 344: 665–667.
White, M. B., Krueger, L. J., Holsclaw, D. S., Jr., Gerrard, B., Stewart, C., Quittell, L., Dolganov, G., Baranov, V., Ivaschenko, T., Kapronov, N. I., Sebastio, G., Castiglione, O., and Dean, M., 1991a, Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA) an Italian (CF2522insC), and a Soviet (CF3821delT), Genomics 10: 266–269.
White, M. B., Leppert, M., Nielson, D., Zielenski, J., Gerrard, B., Stewart, C., and Dean, M., 1916, A de novo cystic fibrosis mutation, submitted.
White, R., 1986, The search for the cystic fibrosis gene, Science 234: 1054–1055.
White, R., Woodward, S., Nakamura, Y., Leppert, ML, O’Connell, P., Hoff, M., Herbst, J., Lalouel, J.-M., Dean, M., and Vande Woude, G., 1985, A closely linked genetic marker for cystic fibrosis, Nature 318: 382–384.
White, R., Leppert, M., O’Connell, P., Nakamura, Y., Woodward, S., Hoff, M., Herbst, J., Dean, M., Vande Woude, G. M., Lathrop, M., and Lalouel, J.-M., 1986, Further linkage data on cystic fibrosis: the Utah study, Am. J. Hum. Genet. 41: 944–947.
Widdicombe, J. H., 1986, Cystic fibrosis and beta-adrenergic response of airway epithelial cell cultures, Am. J. Physiol. 251: R818–R822.
Widdicombe, J. H., Welsh, M. J., and Finkbeiner, W. E., 1985, Cystic fibrosis decreases the apical membrane chloride permeability of monolayers cultured from cells tracheal epithelium, Proc. Natl. Acad. Sci. USA 82: 6167–6171.
Wijcik, L., Buchwald, M., and Riordan, J. R., 1979, Induction of alkaline phosphatase in cultured human fibroblasts. Comparison of normal cells and those from patients with cystic fibrosis, Biochim. Biophys. Acta 585: 374–382.
Wilcken, B., Brown, A. R. D., Urwin, R., and Brown, D. A., 1983, Cystic fibrosis screening by dried blood spot trypsin assay: Results in 75,000 newborn infants, J. Pediatr. 12: 383–387.
Wilkinson, M. M., Busuttil, A., Hayward, C., Brock, D. J. H., Dorin, J. R., and van Heyningen, V., 1988, Expression pattern of two related cystic fibrosis-associated calcium-binding proteins in normal and abnormal tissues, J. Cell Sci. 91: 221–230.
Williams, C., Williamson, R., Coutelle, C., Loeffler, F., Smith, J., and Ivinson, A., 1988c, Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification, Lancet 11: 102–103.
Williams, C., Weber, L., Williamson, R., and Hjelm, M., 19886, Guthrie spots for DNA-based carrier testing in cystic fibrosis, Lancet 11: 693.
Williamson, R., 1987, the cystic fibrosis locus: A progress report, Disease Markers 5: 59–63.
Wilson, G. B., and Fudenberg, H. H., 1976, Studies on cystic fibrosis using isoelectric focusing. II. Demonstration of deficient proteolytic cleavage of alpha2-macroglobulin in cystic fibrosis plasma, Pediatr. Res. 10: 87–96.
Wilson, G. B., Fudenberg, H. H., and Jahn, T. L., 1975, Studies on cystic fibrosis using isoelectric focusing. I. An assay for detection of cystic fibrosis homozygotes and heterozygote carriers from serum, Pediatr. Res. 9: 635–640.
Wilson, G. B., Monsher, M. T., and Fudenberg, H. H., 1977, Studies on cystic fibrosis using isoelectric focusing. III. Correlation between cystic fibrosis protein and ciliary dyskinesia activity in serum shown by a modified rabbit tracheal bioassay, Pediatr. Res. 11: 143–146.
Wilson, G. B., Mcintosh, J., Dietrich, J., and Manning, T., 1984, Controlled comparison of plasma and serum for cystic fibrosis protein, Clin. Genet. 26: 331–338.
Wood, R. E., Boat, T. F., and Doershuk, C. F., 1976, State of the art: Cystic fibrosis, Am. Rev. Respir. Dis. 113: 833–878.
Wright, S. W., and Morton, N. E., 1968, Genetic studies on cystic fibrosis in Hawaii, Am. J. Hum. Genet. 20: 157–169.
Yorifugi, T., Lemna, W. K., Ballard, C. F., Rosenbloom, C. L., Rozmahel, R., Plavsic, N., Tsui, L.-C., and Beaudet, A. L., 1991, Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator, Genomics 10: 547–550.
Yoshimura, K., Nakamura, H., Trapnell, B. C., Dalemans, W., Pavirani, A., Lecocq, J.-P., and Crystal, R. G., 1991, The cystic fibrosis gene has a “house-keeping”-type promoter and is expressed at low levels in cells of epithelial origin, J. Biol. Chem., 266: 9140–9144.
Zengerling, S., Tsui, L.-C., Grzeschik, K.-H., Olek, K., Riordan, J. R., and Buchwald, M., 1987, Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7, Am. J. Hum. Genet. 40: 228–236.
Zielenski, J., Rozmahel, R., Bozon, D., Kerem, B., Grzelczak, Z., Riordan, J. R., Rommens, J. M., and Tsui, L.-C., 1991a, Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, Genomics 10: 214–228.
Zielenski, J., Bozon, D., Kerem, B., Markiewicz, D., Durie, P., Rommens, J. M., and Tsui, L.-C., 1916, Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, Genomics 10: 229–235.
Zielenski, J., Markiewicz, D., Rininsland, F., Rommens, J. R., and Tsui, L.-C., 1991c, A cluster of highly polymorphic dimichotide repeats in intron 17b of the CFTR gene, Am. J. Hum. Genet., submitted.
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© 1991 Plenum Press, New York
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Tsui, LC., Buchwald, M. (1991). Biochemical and Molecular Genetics of Cystic Fibrosis. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 20. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5958-6_4
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