中国西北地区耳聋家系中GJB2基因突变频率分析

Mutation study of GJB2 gene in families with nonsyndromic hearing impairment in Northwest China

目的分析在中国西北地区耳聋家系人群与散发人群之间GJB2基因突变频率的差异性,探讨GJB2基因突变在西北地区耳聋家系人群中的发生频率及其特点。方法收集中国西北地区29个家系的87例耳聋患者、散发非综合征型感音神经性耳聋患者169例及听力正常人117例血样,提取外周血DNA后,进行聚合酶链反应扩增GJB2基因编码区,将扩增产物进行直接测序。运用DNAStar5.0软件进行测序结果分析,对各组GJB2基因突变频率进行统计学分析。结果87例家系耳聋患者中存在GJB2致病突变28例,占32.18%;169例散发耳聋患者中GJB2基因致病突变24例,占14.20%;117例正常对照人群发现GJB2基因突变携带者5例,占4.27%。结论GJB2基因突变在中国西北地区家系耳聋患者与散发耳聋人群的发生频率存在统计学差异(χ2=11.474,P<0.05),对存在GJB2基因突变的耳聋患者进一步对其家系成员重点进行该基因的突变筛查具有重要意义。

Objective To investigate the differences in GJB2 gene mutation frequency between the familial and sporadic patients with hearing impairment in Northwest China.Methods Eighty-seven patients with hearing impairment from twenty-nine families and 169 deaf students from the Special Eaducation School of Qingyang City in Gansu Province were enrolled in this study.Peripheral blood samples were obtained and DNA templates were extracted by phenol-chloro-form method.Using polymerase chain reaction(PCR),the coding regi...