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Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

ABSTRACT: A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22-21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and contains 10.6 Mb of sequence.

SUBMITTER: Chishti MS

PROVIDER: S-EPMC2747327 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature

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Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Chishti Muhammad Salman MS Lee Kwanghyuk K Lee Kwanghyuk K McDonald Merry-Lynn ML Hassan Muhammad Jawad MJ Ansar Muhammad M Ansar Muhammad M Ahmad Wasim W Leal Suzanne M SM

Journal of human genetics 20090220 3

A novel ARNSHI (autosomal recessive non-syndromic hearing impairment) locus, DFNB71, was localized to 8p22-21.3. To map the locus, a whole-genome scan was carried out using DNA samples from a consanguineous seven-generational Pakistani family with profound prelingual ARNSHI. A maximum multipoint LOD score of 4.2 occurred at marker D8S261. The DFNB71 region of homozygosity and 3-unit support interval is flanked by markers D8S1130 and D8S1786. This region has a genetic distance of 19.1 cM and cont ...[more]

PMID: 19229252

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