吉林省先天性耳聋散发病例GJB2基因的突变分析  

Mutation analysis of GJB2 gene in the congenital deafness cases in Jilin Province

作　　者：金慧[1] 张桂茹[1] 王晓明[1] 张宝林[1] 陈金霞[1] 孙乐[1] 王海茹[1] 

机构地区：[1]吉林大学第一医院耳鼻咽喉-头颈外科,吉林长春130021

出　　处：《中国实验诊断学》2008年第10期1283-1284,共2页Chinese Journal of Laboratory Diagnosis

摘　　要：目的探讨吉林省先天性耳聋散发病例GJB2基因的突变状况。方法抽取静脉血,应用酚-氯仿抽提法进行基因组DNA的提取,GJB2基因的PCR扩增,琼脂糖凝胶电泳检测PCR产物是否有异常带型。结果扩增的PCR产物经琼脂糖凝胶电泳表明均获得了约为724 bp的特异扩增条带,41例NSHI患者中GJB2基因的PCR扩增产物无呈异常带型者。结论吉林省内先天性耳聋散发病例中GJB2基因的突变频率较低,可能低于国内其他地区。Objective In order to comprehend the ratio of the mutation of connexin26（ Cx26 ）gene（GJB2） in the congenital deafness cases of Jilin province, we inspected the mutation of connexin26 （ Cx26 ） gene（GJB2）of 41 cases. Methods The blood samples were obtained to distill the DNA templates. Using polymerase chain readion（PCR）,the code region of Cx26 gene was amplified. Genomic DNAs were extracted by Agarose Gel Electrophores and inspected PCR production coding region. Results Genomic DNAs from 41 cases were extracted and amplified by PCR for a 724 bp coding region by Agarose Gel Electrophores and no abnormal coding region. Conclusion The prevalence of deafness causing mutations in connexin26（Cx26）gene（GjB2）in the congenital deafness cases of Jilin province is lower than that of other ethnic groups.

关 键 词：GJB2基因 突变 聚合酶链式反应 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]