التفاصيل البيبلوغرافية
| العنوان: |
Is DFNA5 a susceptibility gene for age-related hearing impairment? |
| المؤلفون: |
Van Laer, Lut, DeStefano, Anita L, Myers, Richard H, Flothmann, Kris, Thys, Sofie, Fransen, Erik, Gates, George A, Van Camp, Guy, Baldwin, Clinton T |
| المصدر: |
European Journal of Human Genetics. Dec2002, Vol. 10 Issue 12, p883. 4p. |
| مصطلحات موضوعية: |
*HEARING disorders, *GENETIC mutation, *HUMAN genetics, *GENETICS |
| مستخلص: |
A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed agerelated 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. [ABSTRACT FROM AUTHOR] |
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