新疆地区非综合征性聋患者线粒体12S rRNA基因突变位点分析

Analysis of mitochondrial 12S rRNA mutation in nonsyndromic hearing impairment patients in Xinjiang

目的研究新疆地区非综合征性聋患者线粒体12S rRNA基因突变情况。方法收集2012~2016年新疆维吾尔自治区人民医院耳鼻咽喉诊疗中心就诊794例非综合征性聋患者和623名听力正常母系家庭成员样本。所有患者进行听力学相关测试,同时采集非综合征性聋患者及部分正常母系家庭成员口腔黏膜组织,将样本送至中优细胞分子遗传学检测中心进行线粒体12S rRNA基因突变检测,对检测结果进行统计分析。结果线粒体12S rRNA基因突变分析共发现17个突变位点,已知A1555G、C1494T、961DelT/InsC和T1095C突变在非综合征性聋患者中检出率分别为1.01%、0.13%、0.76%和0.25%,其他突变均为多态性位点。A1555G和961DelT/InsC突变在汉族非综合征性聋患者检出率显著高于维吾尔族(P=0.001)。C1494T突变在维吾尔族非综合征性聋患者检出率仍然为0,T1095C在两个民族非综合征性聋患者检出率无显著性差异。结论此次新疆地区线粒体12S rRNA A1555G突变在聋病人群检出率有所降低,与耳毒性药物使用量降低有关。线粒体12S rRNA A1555G和961DelT/InsC在汉族中携带率显著高于维吾尔族,维吾尔族中可能存在其他相关的热点突变位点。

OBJECTIVE To study the mitochondrial 12S rRNA mutations in nonsyndromic hearing impairment patients in Xinjiang.METHODS 794 non-syndromic deafness patients and 623 normal hearing matriarchal family members were collected in Xinjiang Uygur Autonomous Region People's Hospital from 2012 to 2016.All patients were tested for audiology,at the same time,the oral mucosa of non-syndromic deafness patients and their normal matrilineal family members were collected for mitochondrial 12S rRNA gene mutation detection in Zhongyou Cytomolecular Genetics Testing Center,then the results were analyzed by software.RESULTS 17 mutation sites in mtDNA 12S rRNA were detected.The relevance ratio of A1555G,C1494T,961DelT and T1095Cin non-syndromic hearing impairment patients were 1.01%,0.13%,0.76%,0.25%.The other mutations appeared to be polymorphisms.The relevance ratio of A1555G and 961DelT/InsC mutations in Han patients with nonsyndromic deafness was significantly higher than that in Uighurs(P=0.001).The relevance ratio of C1494T mutation in Uygur patients with nonsyndromic deafness is still 0.There is no significant difference of relevance ratio of T1095C between the two groups in patients with non-syndromic deafness.CONCLUSION The relevance ratio of mutation in mitochondrial 12SrRNA in deafness patients in Xinjiang was in a relative lower level,it may result from the lower use of ototoxic drug.The relevance ratio of mitochondrial 12S rRNA A1555G and 961DelT/InsC were higher in the Han nationality than in the Uygur nationality,which may have other related hot spot mutation sites.