Document Detail

Is DFNA5 a susceptibility gene for age-related hearing impairment?
MedLine Citation:
PMID:  12461698     Owner:  NLM     Status:  MEDLINE    
A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment (ARHI). The hearing loss is sensorineural, progressive and starts at the high frequencies. As DFNA5 was considered an excellent candidate ARHI susceptibility gene, we performed linkage analysis to a quantitive measure of high frequency hearing loss. However, no significant linkage between ARHI and microsatellite markers from the DFNA5 region could be detected. Subsequently, the DFNA5 coding region was analysed for single nucleotide polymorphisms (SNPs). Two SNPs leading to amino-acid substitutions (P142H and V207M) were selected for further analysis. Using these SNPs, an association study based on a collection of random individuals, and a case-control association study were performed. No significant differences in genotypes between good hearing and hearing impaired individuals could be detected in either study design. We conclude that there exists no strong association between DFNA5 and ARHI.
Lut Van Laer; Anita L DeStefano; Richard H Myers; Kris Flothmann; Sofie Thys; Erik Fransen; George A Gates; Guy Van Camp; Clinton T Baldwin
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  10     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-12-03     Completed Date:  2003-08-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  883-6     Citation Subset:  IM    
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
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MeSH Terms
Aging / genetics,  physiology*
Carrier Proteins / genetics*
Chromosome Mapping
Genetic Predisposition to Disease / genetics*
Hearing Loss, Sensorineural / genetics*
Mutation / genetics
Polymorphism, Single Nucleotide / genetics
Quantitative Trait Loci
Receptors, Estrogen*
Grant Support
Reg. No./Substance:
0/Carrier Proteins; 0/DFNA5 protein, human; 0/Receptors, Estrogen

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