Genetic heterogeneity of Usher syndrome type II

S. P. Dahl, W. J. Kimberling, M. B. Gorin, M. D. Weston, J. M.R. Furman, A. Pikus, C. Moller

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

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 languageEnglish (US)
Pages (from-to)843-848
Number of pages6
JournalJournal of Medical Genetics
Volume30
Issue number10
StatePublished - 1993

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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