Abstract
Recent investigations confirm the significance of TTR 122 (Val→Ile) in cardiac TTR-amyloidosis and its frequency in the Black population. Two additional Blacks with TTR-amyloid in the heart have been found who were heterozygous for the variant (D. R. Jacobson, et. al., unpublished). Studies of other genetic loci in young, healthy TTR 122 (Val→Ile) heterozygotes do not demonstrate a close relationship among them, supporting the conclusion of a 0.01 gene frequency in Blacks (Jacobson, et. al., 1991).
Keywords
- Cystic Fibrosis
- Prion Protein
- Amyloid Precursor Protein Gene
- Familial Amyloidotic Polyneuropathy
- CFTR Protein
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Dohura, K., Tateishi, J., Sasaki, H., Kitamoto, T., and Sakaki, Y., 1989, Pro-Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome, Biochem. Biophys. Res. Commun. 163: 974–979.
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., Mant, R., Newton, P., Rooke, K., Roques, P., Talbot, C., Pericak-Vance, M., Roses, A., Williamson, R., Rossor, M., Owen, M., and Hardy, J., 1991, Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease, Nature 349: 704–706.
Goldfarb, L. G., Mitrova, E., Brown, P., Toh, B. H., and Gajdusek, D. C., 1990, Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia, Lancet 2: 514–515.
Hsiao, K., Meiner, Z., Kahana, E., Cass, C., Kahana, I., Avrahami, D., Scarlato, G., Abramsky, O., Prusiner, S. B., and Gabison, R., 1991, Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease, N. Engl. J. Med. 324: 1091–1097.
Ii, S., Minnerath, S., Ii, K., Dyck, P. J., and Sommer, S. S., 1991, Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations, Neurology 41: 893–898.
Jacobson, D. R., Reveille, J. D., and Buxbaum, J. N., 1991, Frequency and genetic background of the position 122 (Val→Ile) transthyretin gene in the black population, Am. J. Hum. Genet. 49: 192–198.
Jones, L. A., Skare, J. C., Harding, J. A., Cohen, A. S., Milunsky, A., and Skinner, M., 1991, Proline at position 36; A new transthyretin mutation associated with familial amyloidotic polyneuropathy, Am. J. Hum. Genet. 48: 979–982.
Naruse, S., Igarashi, S., Aoki, K., Kaneko, K., Ihara, K., Miyatake, T., Kobayashi, H., Inuzuka, T., Shimizu, T., Kojima, T., and Tsuji, S., 1991, Lancet 978: 979.
Owen, F., Poulter, M., Lofthouse, R., Collinge, J., Crow, T. J., Risby, D., Baker, H. F., Ridley, R. ML, Hsiao, K., and Prusiner, S. B., 1989, Insertion in prion protein gene in familial Creutzfeldt-Jakob disease, Lancet 1: 51–52.
Palmer, M. S., Dryden, A. J., Hughes, J. T., and Collinge, J., 1991, Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease, Nature 352: 340–342.
Prusiner, S. B., 1991, Molecular biology of prion diseases, Science 252: 1515–1522.
van Duijn, C. M., Hendriks, L., Cruts, M., Hardy, J. A., Hofman, A., and Van Broeckhoven, C., 1991, Amyloid precursor protein gene mutation in early-onset Alzheimer’s disease, Lancet 337: 978.
Anderson, M. P., Gregory, R. J., Thompson, S., Souza, D. W., Paul, S., Mulligan, R. C., Smith, A. E., and Welsh, M. J., 1991, Demonstration that CFTR is a chloride channel by alteration of its anion selectivity, Science 253: 202–205.
Barasch, J., Kiss, B., Prince, A., Saiman, L., Gruenert, D., and Al-Awqati, Q., 1991, Defective acidification of intracellular organelles in cystic fibrosis, Nature 352: 70–73.
Rich, D. P., Gregory, R. J., Anderson, M. P., Manavalan, P., Smith, A. E and Welsh, M. J., 1991, Effect of deleting the R domain on CFTR-generated chloride channels, Science 253: 205–207.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Plenum Press, New York
About this chapter
Cite this chapter
Jacobson, D.R., Buxbaum, J.N., Tsui, LC., Buchwald, M. (1991). Addenda. 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_6
Download citation
DOI: https://doi.org/10.1007/978-1-4684-5958-6_6
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5960-9
Online ISBN: 978-1-4684-5958-6
eBook Packages: Springer Book Archive