Abstract
Primary--i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives.
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- Dixon M. J., Read A. P., Donnai D., Colley A., Dixon J., Williamson R. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet. 1991 Jul;49(1):17–22. [PMC free article] [PubMed] [Google Scholar]
- Feinberg A. P., Vogelstein B. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984 Feb;137(1):266–267. doi: 10.1016/0003-2697(84)90381-6. [DOI] [PubMed] [Google Scholar]
- Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
- Hall J. M., Zuppan P. J., Anderson L. A., Huey B., Carter C., King M. C. Oncogenes and human breast cancer. Am J Hum Genet. 1989 Apr;44(4):577–584. [PMC free article] [PubMed] [Google Scholar]
- Jabs E. W., Li X., Coss C. A., Taylor E. W., Meyers D. A., Weber J. L. Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. Genomics. 1991 Sep;11(1):193–198. [PubMed] [Google Scholar]
- Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed] [Google Scholar]
- Lee B., Godfrey M., Vitale E., Hori H., Mattei M. G., Sarfarazi M., Tsipouras P., Ramirez F., Hollister D. W. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991 Jul 25;352(6333):330–334. doi: 10.1038/352330a0. [DOI] [PubMed] [Google Scholar]
- León P. E., Bonilla J. A., Sánchez J. R., Vanegas R., Villalobos M., Torres L., León F., Howell A. L., Rodríguez J. A. Low frequency hereditary deafness in man with childhood onset. Am J Hum Genet. 1981 Mar;33(2):209–214. [PMC free article] [PubMed] [Google Scholar]
- Louie L. G., King M. C. A novel approach to establishing permanent lymphoblastoid cell lines: Epstein-Barr virus transformation of cryopreserved lymphocytes. Am J Hum Genet. 1991 Mar;48(3):637–638. [PMC free article] [PubMed] [Google Scholar]
- Polymeropoulos M. H., Xiao H., Rath D. S., Merril C. R. Dinucleotide repeat polymorphism at the human interleukin 9 gene. Nucleic Acids Res. 1991 Feb 11;19(3):688–688. [PMC free article] [PubMed] [Google Scholar]
- Warrington J. A., Hall L. V., Hinton L. M., Miller J. N., Wasmuth J. J., Lovett M. Radiation hybrid map of 13 loci on the long arm of chromosome 5. Genomics. 1991 Nov;11(3):701–708. doi: 10.1016/0888-7543(91)90078-s. [DOI] [PubMed] [Google Scholar]
- Weber J. L., Polymeropoulos M. H., May P. E., Kwitek A. E., Xiao H., McPherson J. D., Wasmuth J. J. Mapping of human chromosome 5 microsatellite DNA polymorphisms. Genomics. 1991 Nov;11(3):695–700. doi: 10.1016/0888-7543(91)90077-r. [DOI] [PubMed] [Google Scholar]
- Westbrook C. A., Neuman W. L., Hewitt J., Kidd K. K., Le Beau M. M., Williamson R. Report of the chromosome 5 workshop. Genomics. 1991 Aug;10(4):1105–1109. doi: 10.1016/0888-7543(91)90211-v. [DOI] [PubMed] [Google Scholar]