论文部分内容阅读
目的:研究新疆维吾尔族非综合征性遗传性聋患者GJB2基因突变的情况。方法:采用直接测序法对新疆维吾尔族非综合征性遗传性聋患者43例和健康对照46例进行GJB2基因突变的检测。结果:在编码区耳聋组共发现6种碱基改变:380G>A、109G>A、235 delC、233delC、71G>A及35 delG,其中235 delC杂合突变1例,233 delC纯合突变2例,35 delG杂合突变2例;对照组发现6种碱基改变,其中5种为已明确的常见多态性改变。结论:新疆维吾尔族非综合征性遗传性聋患者GJB2基因突变检出率较低,具有种族和地域性特点。
Objective: To study the GJB2 gene mutation in Uygur non-syndromic hereditary deafness in Xinjiang Uygur Autonomous Region. Methods: GJB2 gene mutation was detected in 43 Uygur non-syndromic hereditary deaf patients and 46 healthy controls by direct sequencing. RESULTS: Six kinds of base changes were found in the deafness group: 380G> A, 109G> A, 235 delC, 233delC, 71G> A and 35 delG, including 235 delC heterozygous mutation and 233 delC homozygous mutation 2 Cases, 35 delG heterozygous mutation in 2 cases; control group found that 6 kinds of base changes, of which 5 have been identified common polymorphism. Conclusion: The prevalence of GJB2 gene mutation in Uygur non-syndromic hereditary deafness in Xinjiang is relatively low, with ethnic and regional characteristics.