乌鲁木齐地区线粒体12SrRNA基因突变筛查分析

Screening and analysis of mitochondrial 12S rRNA mutation in Urumqi area

目的研究乌鲁木齐地区非综合征性聋患者线粒体12S r RNA基因突变情况。方法收集乌鲁木齐非综合征性聋患者标本609例,对其进行临床和分子遗传学评估。结果 12S r RNA基因突变分析共发现11个突变位点,已知的A1555G、961Del T、C1494T突变分别占2.96%,1.15%,0.16%。另外A1047G突变相关报道较少,A1585G突变未见相关报道。其他突变均为多态性位点。结论线粒体12S r RNA突变是引起遗传性聋的重要因素,此次乌鲁木齐地区线粒体12S r RNA A1555G突变在聋病人群中的检出率与前期报道相比有所降低,可能与耳毒性药物使用量降低有关。A1047G与新发现的A1585G突变是否与聋相关,还需进一步研究。对筛查中阳性突变携带者及其母系家庭成员需告知氨基糖苷类抗生素使用风险,使其避免使用,逐步降低药物性聋的发生率。

OBJECTIVE To study the mitochondrial DNA(mtDNA) 12 S rRNA mutations in nonsyndromic hearing impairment patients of Urumqi.METHODS A total of 609 non-syndromic hearing impairment subjects were recruited in Urumqi.These subjects underwent clinical,genetic evaluation and molecular analysis of 12 S rRNA gene.RESULTS Eleven mutation sites in mtDNA 12 S rRNA were detected.The relevance ratio of A1555 G,C1494T,961 DelT in non-syndromic hearing impairment patients were 2.96%,1.15%and 0.16%.The A1047G(little has been reported) and A1585G(has no reported) were also detected.The other mutations appeared to be polymorphisms.CONCLUSION The mtDNA 12 S rRNA mutation is the important factor of hereditary hearing loss.The relevance ratio of A1555 G mutations in deafness patients in Urumqi is in a relative average level of China and lower than our early study result,it may result from the lower use of ototoxic drug.Whether the A1047 G and A1585 G mutations related to the hereditary hearing loss or not needs further research.Moreover,the positive mutation carrier must be informed the risk of aminoglycoside ototoxicity for their maternal members to reduce the incidence of ototoxicity deafness.