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

A novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus, DFNB71 was localized to 8p22-21.3. In order 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 multipo...

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Detalles Bibliográficos
Autores principales: Chishti, Muhammad Salman, Lee, Kwanghyuk, McDonald, Merry-Lynn, Hassan, Muhammad Jawad, Ansar, Muhammad, Ahmad, Wasim, Leal, Suzanne M
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747327/
https://www.ncbi.nlm.nih.gov/pubmed/19229252
http://dx.doi.org/10.1038/jhg.2009.2
Descripción
Sumario:A novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus, DFNB71 was localized to 8p22-21.3. In order 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.

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