Linked Life Data

12529709

Source:http://linkedlifedata.com/resource/pubmed/id/12529709

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-1-16
pubmed:databankReference
pubmed:abstractText
Autosomal recessive nonsyndromic deafness is one of the most frequent forms of inherited hearing impairment. Over 30 autosomal recessive nonsyndromic hearing loss loci have been mapped, and 15 genes have been isolated. Of the over 30 reported autosomal recessive nonsyndromic hearing loss (NSHL) loci, the typical phenotype is prelingual non-progressive severe to profound hearing loss with the exception of DFNB8, which displays postlingual onset and DFNB13, which is progressive. In this report we describe a large inbred kindred from a remote area of Pakistan, comprising six generations and segregating autosomal recessive nonsyndromic prelingual deafness. DNA samples from 24 individuals were used for genome wide screen and fine mapping. Linkage analysis indicates that in this family the NSHL locus, (DFNB35) maps to a 17.54 cM region on chromosome 14 flanked by markers D14S57 and D14S59. Examination of haplotypes reveals a region that is homozygous for 11.75 cM spanning between markers D14S588 and D14S59. A maximum two-point LOD score of 5.3 and multipoint LOD score of 7.6 was obtained at marker D14S53. The interval for DFNB35 does not overlap with the regions for DFNA9, DFNA23 or DFNB5.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-10777717, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-2813076, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-5006530, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-8317490, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-8541854, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-8651312, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-8817345, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-9106521, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-9585227, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-9718341, http://linkedlifedata.com/resource/pubmed/commentcorrection/12529709-9806553
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
77-80
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.
pubmed:affiliation
Department of Biological Sciences, Quaid-I-Azam University Islamabad, Pakistan.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't