Abstract
In this chapter we review the evidence for genetic heterogeneity and clinical variability of A-T. Because of the existence of five complementation groups [Jasper et al. 1988], a homogeneity model is automatically suspect. There are also clinical variants of A-T, and those are discussed briefly.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
Aicardi J, Barbosas C, Andermann E, Andermann F, Morcos R, Ghanem Q, Fukuyama Y, Awaya Y, Moe P (1988) Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol 24:497–502
Byrne E, Hallpike JF, Manson JI, Sutherland GR, Thong YH (1984) Progressive multisystem degeneration with IgE deficiency and chromosomal instability. J Neurol Sci 66:307–317
Charmley P, Foroud T, Wei S, Concannon P, Weeks DE, Lange K, Gatti RA (1990) A primary linkage map of the human chromosome 11q22–23 region. Genomics 6:316–323
Conley ME, Spinner MB, Emanuel BS, Nowell PC, Nichols WW (1986) A chromosome breakage syndrome with profound immunodeficiency. Blood 67:1251–1256
Curry CJR, O’Lague P, Tsai J, Hutchinson HT, Jaspers NGJ, Wara D, Gatti RA (1989) ATFresno: A phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Amer J. Hum Genet 45:270–275
Dausset J, Cann H, Cohen D, Lathrop M, Lalouel J-M, White R (1990) Centre d’Etude du Polymorphisme Humain (CEPH): Collaborative genetic mapping of the human genome. Genomics 6:575–577
Fiorilli M, Businco L, Pandolfi F, Paganelli R, Russo G, Aiuti F (1983) Heterogeneity of immunological abnormalities in ataxia-telangiectasia. J Clin Immunol 3:135–141
Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa L, Charmley P, Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor AMR, Shiloh Y, Lange K, Gatti RA (1991) Localization of an ataxia-telangiectasia locus to a 3 cM interval on chromosome 11q23: Linkage analysis of 111 families by an international consortium. Am J Hum Genet 49:1263–1279
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O’Connell P, Paterson M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Wei S, White R, Yoder F (1988a) Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 336:577–580
Gatti RA, Shaked R, Wei S, Koyama M, Salser W, Silver J (1988b) DNA polymorphism in the human Thy-1 gene. Hum Immunol 22:145–150
Goradia TM, Lange K, Miller PL, Nadkarni PM (1992) Fast computation of genetic likelihoods on human pedigree data. Hum Hered 42:42–62
Hecht F, McCaw BK (1977) Chromosome instability syndromes, in Genetics of Human Cancer. (eds. Mulvihill JJ, Miller RW, Fraumeni JF). Raven Press, New York pp 105–123
Jaspers NGJ, Gatti RA, Baan C, Luissen PCML, Bootsma D (1988) Genetic complementation analysis of ataxia-telangiectasia and Ni-jmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 49:259–263
Jaspers NGJ, Taalman RDFM, Baan C (1988) Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relation to ataxia-telangiectasia. Amer J. Hum Genet 42:66–73
Julier C, Nakamura Y, Lathrop M, O’Connell P, Leppert M, Litt M, Mohandas T, Lalouel JM, White R (1990) A detailed map of the long arm of chromosome 11. Genomics 7:335–345
Kapp LN, Painter RB (1989) Stable radioresistance in ataxia-telangiectasia cells containing DNA form normal human cells. Int J Radiat Biol 56:667–675
Kapp LN, Painter RB, Yu L-C, van Loon N, Richard CW, James MR, Cox DR, Murnane JP (1992) Cloning of a candidate gene for ataxia-telangiectasia group D. Am J Hum Genet 51:45–54
Komatsu K, Kodama S, Okumura Y, Koi M, Oshimura M (1990) Restoration of radiation resistance in ataxia-telangiectasia cells by the introduction of normal human chromosome 11. Mutat Res 235:59–63
Lander ES, Green P (1987) Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 84:2363–2367
Lange K, Matthysse S (1989) Simulations of pedigree genotypes by random walks. Amer J Hum Genet 45:959–970
Lange K, Sobel E (1991) A random walk method for computing genetic location scores. Am J Hum Genet 49:1320–1334
Lange K, Weeks DE (1989) Efficient computation of lod scores: Genotype elimination, genotype redefinition, and hybrid maximum likelihood algorithms. Ann Hum Genet 53:67–83
Lathrop GM, Lalouel J-M, Julier C, Ott J (1984) Strategies for multi-locus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446
Lathrop GM, Lalouel J-M, White RL (1986) Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidem 3:39–52
McConville CM, Formstone CJ, Hernandez D, Thick J, Taylor AMR (1990a) Fine mapping of the chromosome 11q22–23 region using rFGE, linkage and haplotype analysis; localization of the gene for ataxia telangiectasia to a 5cM region flanked by NCAM/DRD2 and STMY/CJ52.75, phi 2.22. Nucleic Acids Res 18: 4335–4343
McConville CM, Woods CG, Farrall M, Metcalfe JA, Taylor AMR (1990b) Analysis of 7 polymorphic markers at chromosome 11q22–23 in 35 ataxia- telangiectasia families: further evidence of linkage. Human Genet 85:215–220
Maserati E, Ottoline A, Veggiatti P, Lanzi G, Pasquali F (1988) Ataxia without telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clin Genet 34:283–287
Maslen CL, Jones C, Glaser T, Magenis RE, Sheehy R, Kelogg J, Litt M (1988) Seven polymorphic loci mapping to human chromosome region 11q22-qter. Genomics 2:66–75
Ott J (1991) Analysis of Human Genetic Linkage, Rev. Ed. Johns Hopkins, Baltimore.
Sanal O, Wei S, Foroud T, Malhotra U, Concannon P, Charmley P, Salser W, Lange K, Gatti RA (1990) Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. Am J Hum Genet 47: 860–866
Seemanova E, Passarge E, Beneskova D, Houstek J, Kasal P, Sevcikova M. (1985) Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet 20:639–648
Sobel E, Lange E, Jaspers NGJ, Chessa L, Sanal O, Shiloh J, Taylor AMR, Weemaes CMA, Lange K, Gatti RA (1992) Ataxia-telangiectasia: linkage evidence for genetic heterogeneity. Am J Hum Genet 50:1343–1348
Taylor AMR, Flude E, Laher B, Stacer M, McKay E, Watt J, Green SH, Harding AE (1987) Variant forms of ataxia-telangiectasia. J Med Genet 24: 669–677
Weemaes CMR, Hustinx TWJ, Scheres JMJC, Van Munster PJJ, Bak-keren JAJM, Taalman RDFM (1981) A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr. Scand. 70:557–562
Wegner RD, Metzger M, Hanefeld NG, Jaspers J, Baan C, Magdorf K, Kunze J, Sperling K (1988) A new chromosomal instability disorder confirmed by complementation studies. Clin Genet 33:20–32
Wei S, Rocchi M, Archidiacono N, Sacchi N, Romeo G, Gatti RA (1990) Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus. Cancer Genet Cytogenet 46:1–8
Ying KL, Decoteau WE (1981) Cytogenetic anomalies in a patient with ataxia, immune deficiency and high alpha-fetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4: 311–317
Ziv Y, Amiel A, Jaspers NGJ, Berkel AI, Shiloh Y (1989) Ataxia-telangiectasia: a variant with altered in vitro phenotype of fibroblast cells. Mut Res 210:211–219
Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, NGJ Japsers, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lanthrop M, Gatti RA, Shiloh Y (1992) Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Hum Genet 88:619–626
Ziv Y, Rotman G, Frydman M, Dagan J, Cohen T, Foroud T, Gatti RA, Shiloh Y (1991) The ATC (ataxia-telangiectasia group C) locus localizes to chromosome 11q22–q23. Genomics 9:373–375
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Lange, E., Gatti, R.A., Sobel, E., Concannon, P., Lange, K. (1993). How Many Ataxia-Telangiectasia Genes?. In: Gatti, R.A., Painter, R.B. (eds) Ataxia-Telangiectasia. NATO ASI Series, vol 77. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-78278-7_4
Download citation
DOI: https://doi.org/10.1007/978-3-642-78278-7_4
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-78280-0
Online ISBN: 978-3-642-78278-7
eBook Packages: Springer Book Archive