GJB3基因在新疆维汉两民族遗传性非综合征耳聋患者的突变分析

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

目的耳聋具有高度的遗传异质性,分析GJB3基因在新疆地区维汉两族中的突变,了解其分子病因学机制。方法调查对象来自新疆地区非综合征耳聋患者(耳聋组)93例,其中维吾尔族43例。对照组为听力正常者110例,其中维吾尔族56例。所有受检者均采集外周血并提取DNA,应用聚合酶链反应(PCR)产物直接测序方法对各种感音神经性耳聋患者93名、对照组110名进行GJB3基因编码区突变检测及鉴定。结果在93名患者中发现GJB3基因的3种单核苷酸改变,其中有两种碱基变化导致了氨基酸的改变,为错义突变方式。其中1个突变(256G→A),另1个突变形式(33C→T)为本研究首次发现。110名正常对照组中未发现同样突变。结论国人非综合征型遗传性聋者GJB3基因突变筛查研究发现了一个GJB3基因新的突变形式(256G→A),为进一步开展耳聋相关基因的筛查研究打下了基础。

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.