广西地区壮族正常听力人群线粒体基因12S rRNA的突变研究

A study on the mutations of mitochondrial gene 12S rRNA among Zhuang people with normal hearing in Guangxi region

目的研究广西地区壮族正常听力人群线粒体基因12S rRNA的突变携带率以及突变特点,为临床防聋及治聋提供参考。方法采用晶芯十五项遗传性耳聋基因检测试剂盒(微阵列芯片法)对广西地区150例壮族正常听力的受试者进行线粒体基因12S rRNA的2个突变位点检测,对确诊的阳性结果进行Sanger测序分析。结果150例受试者中,检出线粒体基因12S rRNA 1555 A>G突变者1例(携带率为0.67%),经Sanger测序证实为1555 A>G突变,未发现1494C>T位点突变。结论在广西地区壮族人群中开展线粒体基因12S rRNA突变筛查具有重要意义,可以为突变携带者及其母系亲属提供合理的用药指导、遗传咨询,是预防药物性聋的有效措施。

Objective To study the mutation carrying rate and characteristics of the mutation of mitochondrial gene 12S rRNA in Zhuang people with normal hearing in Guangxi region,so as to provide reference for clinical prevention and treatment of deafness.Methods Two mutation sites of mitochondrial gene 12S rRNA were detected in 150 cases of Zhuang people with normal hearing by using Crystal Core 15-Item Genetic Deafness Test Kit(Microarray Chip Method),a deafness gene mutation test kit.Sanger sequencing was performed on the positive results of the confirmed diagnosis.Results Among the 150 subjects,mitochondrial gene 12S rRNA 1555 A>G mutation was detected in one case and its carrying rate was 0.67%.The case was confirmed as having 1555 A>G mutation by Sanger sequencing,and no mutation was found at 1494C>T site.Conclusion It is of great significance to carry out mitochondrial gene 12S rRNA mutation screening among Zhuang people in Guangxi region,which can provide reasonable medication guidance and genetic counseling for mutation carriers and their maternal relatives,and is an effective measure to prevent drug-related deafness.