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《Journal of Xinjiang Medical University》 2009-07
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Mutation Analysis of GJB3 in HAN PEOPLE with Non-syndromic Hearing Impairment in Xinjiang

Du Rui-li,Li Hui-wu,Li Hui,et al (Department of Biochemistry and Molecular Biology,Xinjiang Medical University, Urumqi 830011,China)  
Objective:To investigate the contribution of the GJB3 gene(encoding connexin 31) mutations in HAN PEOPLE with sporadicnon-syndromic hearing impairment.Methods:PCR were performed with one pair of primer in the coding sequence of GJB3 gene.Bidirectional sequencing of PCR products was subsequently applied in 50 patients with hearing loss and 55 normal controls.Results:Two different single basepair changes were detected:357C→T and 766G→A.Conclusion:The discover of the novel mutation (766G→A) can help GJB3 screening in the patients with hearing impairment in the future.
【Fund】: 新疆维吾尔自治区自然基金资助项目(200721117)
【CateGory Index】: R764.43
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