Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Modern Medicine Journal of China》 2009-06
Add to Favorite Get Latest Update

Mutation analysis of GJB3 between Chinese and Uighur population with nonsyndromic hearing impairment

Du Ruili,Li Huiwu,Zhao Xuexin,et al.Xinjiang University of Medical Science 830011  
Objective To investigate the contribution of the GJB3 gene(encoding connexin 31) mutations in Uighur and Chinese Population 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 93 patients with hearing loss and 110 normal controls.Results Two differents in glebasepair changes were detected:766G →A and 790A→P.Two patients carried two kinds of mutation.264A→P mutation was reported before.The other was a novel mutation-250G→A,resulted in Aminoacid change,V84I.This mutation was not detected in the control subjects.The valine with alteration residuelied with in the second conserved transmembrane domain.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科学基金资助项目(No.200721117)
【CateGory Index】: R764.43
Download(CAJ format) Download(PDF format)
CAJViewer7.0 supports all the CNKI file formats; AdobeReader only supports the PDF format.
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved