Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.

Abstract

Usher Syndrome Type 1 is an autosomal recessive disease characterized by profound congenital hearing impairement and vestibular dysfunction followed by the onset of retinitis pigmentosa in childhood or early adolescence. Members of the Usher Syndrome Consortium, whose objective is to locate and isolate the genes for Usher syndrome, have pooled linkage data from 36 families with 111 affected individuals. We report the analysis of 206 blood group, protein, and DNA marker polymorphisms. No evidence of linkage heterogeneity among families was found for any of the markers studied; the negative lod scores exclude the locus for this disease from about 39% of the genome. Our results indicate the regions of the genome to which our continuing efforts should be directed.

• Authors: B J Keats, A A Todorov, L D Atwood, M Z Pelias, J F Hejtmancik, W J Kimberling, M Leppert, R A Lewis, R J Smith
• Journal: Genomics (Genomics) Vol. 14 Issue 3 Pg. 707-14 (Nov 1992) ISSN: 0888-7543 [Print] United States
• PMID: 1427898 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Genetic Markers

Topics

• Chromosome Mapping
• Chromosomes, Human
• Deafness (genetics)
• Genes, Recessive
• Genetic Linkage
• Genetic Markers
• Humans
• Retinitis Pigmentosa (genetics)
• Syndrome