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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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
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author Chishti, Muhammad Salman
Lee, Kwanghyuk
McDonald, Merry-Lynn
Hassan, Muhammad Jawad
Ansar, Muhammad
Ahmad, Wasim
Leal, Suzanne M
author_facet Chishti, Muhammad Salman
Lee, Kwanghyuk
McDonald, Merry-Lynn
Hassan, Muhammad Jawad
Ansar, Muhammad
Ahmad, Wasim
Leal, Suzanne M
author_sort Chishti, Muhammad Salman
collection PubMed
description 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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spelling pubmed-27473272009-09-21 Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3 Chishti, Muhammad Salman Lee, Kwanghyuk McDonald, Merry-Lynn Hassan, Muhammad Jawad Ansar, Muhammad Ahmad, Wasim Leal, Suzanne M J Hum Genet Article 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. 2009-02-20 2009-03 /pmc/articles/PMC2747327/ /pubmed/19229252 http://dx.doi.org/10.1038/jhg.2009.2 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Chishti, Muhammad Salman
Lee, Kwanghyuk
McDonald, Merry-Lynn
Hassan, Muhammad Jawad
Ansar, Muhammad
Ahmad, Wasim
Leal, Suzanne M
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
title Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
title_full Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
title_fullStr Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
title_full_unstemmed Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
title_short Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
title_sort novel autosomal recessive non-syndromic hearing impairment locus (dfnb71) maps to chromosome 8p22-21.3
topic Article
url 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
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