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. 1994 Apr;54(4):681–686.

Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.

B J Keats 1, N Nouri 1, M Z Pelias 1, P L Deininger 1, M Litt 1
PMCID: PMC1918090  PMID: 8128966

Abstract

Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barrong S. D., Chaitin M. H., Fliesler S. J., Possin D. E., Jacobson S. G., Milam A. H. Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. Arch Ophthalmol. 1992 May;110(5):706–710. doi: 10.1001/archopht.1992.01080170128040. [DOI] [PubMed] [Google Scholar]
  2. Boughman J. A., Vernon M., Shaver K. A. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36(8):595–603. doi: 10.1016/0021-9681(83)90147-9. [DOI] [PubMed] [Google Scholar]
  3. Kaplan J., Gerber S., Bonneau D., Rozet J. M., Delrieu O., Briard M. L., Dollfus H., Ghazi I., Dufier J. L., Frézal J. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 1992 Dec;14(4):979–987. doi: 10.1016/s0888-7543(05)80120-x. [DOI] [PubMed] [Google Scholar]
  4. Keats B. J., Todorov A. A., Atwood L. D., Pelias M. Z., Hejtmancik J. F., Kimberling W. J., Leppert M., Lewis R. A., Smith R. J. Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium. Genomics. 1992 Nov;14(3):707–714. doi: 10.1016/s0888-7543(05)80172-7. [DOI] [PubMed] [Google Scholar]
  5. Kimberling W. J., Möller C. G., Davenport S., Priluck I. A., Beighton P. H., Greenberg J., Reardon W., Weston M. D., Kenyon J. B., Grunkemeyer J. A. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992 Dec;14(4):988–994. doi: 10.1016/s0888-7543(05)80121-1. [DOI] [PubMed] [Google Scholar]
  6. Kimberling W. J., Weston M. D., Möller C., Davenport S. L., Shugart Y. Y., Priluck I. A., Martini A., Milani M., Smith R. J. Localization of Usher syndrome type II to chromosome 1q. Genomics. 1990 Jun;7(2):245–249. doi: 10.1016/0888-7543(90)90546-7. [DOI] [PubMed] [Google Scholar]
  7. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Lewis R. A., Otterud B., Stauffer D., Lalouel J. M., Leppert M. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics. 1990 Jun;7(2):250–256. doi: 10.1016/0888-7543(90)90547-8. [DOI] [PubMed] [Google Scholar]
  9. Möller C. G., Kimberling W. J., Davenport S. L., Priluck I., White V., Biscone-Halterman K., Odkvist L. M., Brookhouser P. E., Lund G., Grissom T. J. Usher syndrome: an otoneurologic study. Laryngoscope. 1989 Jan;99(1):73–79. doi: 10.1288/00005537-198901000-00014. [DOI] [PubMed] [Google Scholar]
  10. Sirugo G., Keats B., Fujita R., Duclos F., Purohit K., Koenig M., Mandel J. L. Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet. 1992 Mar;50(3):559–566. [PMC free article] [PubMed] [Google Scholar]
  11. Smith R. J., Lee E. C., Kimberling W. J., Daiger S. P., Pelias M. Z., Keats B. J., Jay M., Bird A., Reardon W., Guest M. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992 Dec;14(4):995–1002. doi: 10.1016/s0888-7543(05)80122-3. [DOI] [PubMed] [Google Scholar]
  12. Smith R. J., Pelias M. Z., Daiger S. P., Keats B., Kimberling W., Hejtmancik J. F. Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet. 1992 Aug 1;43(6):964–969. doi: 10.1002/ajmg.1320430612. [DOI] [PubMed] [Google Scholar]

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