A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
| Autor: | James H. Asher, Thomas D. Barber, I. N. Arhya, James L. Weber, Thomas B. Friedman, John T. Hinnant, Sunaryana Winata, Yong Liang |
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| Rok vydání: | 1995 |
| Předmět: |
Genetic Markers
Male MYO15A Genetic Linkage Locus (genetics) Genes Recessive Biology Deafness Linkage Disequilibrium Mice Gene mapping Genetic linkage Genetics Animals Humans Gene Alleles Chromosome Mapping Disease gene identification Founder Effect Pedigree Chromosome 17 (human) Genetic marker Indonesia Female Chromosomes Human Pair 17 |
| Zdroj: | Nature genetics. 9(1) |
| ISSN: | 1061-4036 |
| Popis: | Two percent of the residents of Bengkala, Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genorne–wide disequilibrium search strategy, allele–frequency–dependent homozygosity mapping (AHM), and an analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. DFNB3 maps to chromosome 17, closest to D17S261, pRM7–GT and D17S805. In individuals homozygous for DFNB3, historical recombinant genotypes for the flanking markers, D17S122 and D17S783, place DFNB3 in a 5.3 cM interval of the pericentromeric region of chromosome 17 on a refined linkage map of 17p–17q12. Based on conserved synteny, the murine sh2 gene may be the homologue of DFNB3. |
| Databáze: | OpenAIRE |
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