【摘要】 目的:探讨新疆汉族地区缝隙连接蛋白编码基因31(GJB3)突变在中国遗传非综合征型耳聋人群中的特征。方法:应用聚合酶链反应产物直接测序方法对新疆地区对非综合征型遗传性聋患者50名、对照组55名进行GJB3基因编码区突变检测及鉴定编码区突变检测及鉴定。结果:在50名患者中发现GJB3基因的2种单核苷酸改变,其中有1种碱基变化导致了氨基酸的改变,其中一个突变(357C→T)与夏家辉等报道相同;另一个突变形式(766G→A)为本研究首次发现。55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(766G→A),为进一步开展耳聋相关基因的筛查研究打下了基础。更多还原

【Abstract】 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.更多还原