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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2009-3-26
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-11731797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-12045153,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-12634867,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-16685644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-17989245,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-1952587,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-2813076,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-7762577,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-7829101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-8317490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-8503444,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-8651310,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-8661103,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19229252-9634505
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1435-232X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
54
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
141-4
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pubmed:meshHeading |
pubmed-meshheading:19229252-Audiometry,
pubmed-meshheading:19229252-Chromosome Mapping,
pubmed-meshheading:19229252-Chromosomes, Human, Pair 8,
pubmed-meshheading:19229252-Female,
pubmed-meshheading:19229252-Genes, Recessive,
pubmed-meshheading:19229252-Genetic Loci,
pubmed-meshheading:19229252-Genetic Markers,
pubmed-meshheading:19229252-Hearing Loss,
pubmed-meshheading:19229252-Humans,
pubmed-meshheading:19229252-Lod Score,
pubmed-meshheading:19229252-Male,
pubmed-meshheading:19229252-Pedigree
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pubmed:year |
2009
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pubmed:articleTitle |
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.
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pubmed:affiliation |
Department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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