The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin)
Journal Title: Zahedan Journal of Research in Medical Sciences - Year 2010, Vol 12, Issue 3
Abstract
Background: Hearing loss is a common disorder affecting millions of individuals worldwide with opproximately 1 in 1000 newborns. A novel gene, DFNB59 encods Pejvakin has been recently shown to cause neural deafness. The aim of this study was to determine the frequency of DFNB59 gene mutations in 93 deaf pupils in Sistan & Baluchestan province. Materials and Method: We investigated the frequency of DFNB59 gene mutations in the coding regions (exons 2-7) of the gene.DNA was extracted following the standard phenol chloroform procedure, the frequency of DFNB59 gene mutations was investigated using PCR-SSCP /HA strategy. Results: No pathogenic variant was detected in samples studied. However, one polymorphism including 793C>G was determined in 3 of 93 (3.2%) subject examined. Conclusion: The results of this study showed no association between DFNB59 gene mutations and hearing loss in Sistan va Baluchestan province. [ZJRMS, 12(3):19-23] Keywords: PCR-SSCP, heteroduplex analysis, pejvakin, deafness
Authors and Affiliations
Marzieh Abolhasani , Effat Farrokhi , Mohsen Noorbakhsh , Maryam Taherzadeh , Fatemeh Azadegan , Azam Asgari , Morteza Hashmzadeh
Keywords
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