期刊
HUMAN HEREDITY
卷 55, 期 1, 页码 71-74出版社
KARGER
DOI: 10.1159/000071813
关键词
autosomal recessive hearing impairment; DFNB38; gene mapping; Pakistan; 6q26-q27
资金
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [N01HG065403] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [R01DC003594, R29DC003594] Funding Source: NIH RePORTER
- NHGRI NIH HHS [N01HG65403] Funding Source: Medline
- NIDCD NIH HHS [DC03594, R29 DC003594-03, R29 DC003594, R01 DC003594] Funding Source: Medline
For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26-q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. Copyright (C) 2003 S. Karger AG, Basel.
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