Abstract
Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome Iq32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p
| Original language | English (US) |
|---|---|
| Pages (from-to) | 843-848 |
| Number of pages | 6 |
| Journal | Journal of Medical Genetics |
| Volume | 30 |
| Issue number | 10 |
| State | Published - Jan 1 1993 |
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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Dahl, S. P., Kimberling, W. J., Gorin, M. B., Weston, M. D., Furman, J. M. R., Pikus, A., & Moller, C. (1993). Genetic heterogeneity of Usher syndrome type II. Journal of Medical Genetics, 30(10), 843-848.