湖北省非综合征型耳聋患儿GJB2、SLC26A4和线粒体12S rRNA突变分析

发布时间：2019-02-17 09:38

【摘要】：目的分析非综合征型耳聋患儿的GJB2、SLC26A4基因和线粒体12SrRNA突变频率,扩充中国人群常见耳聋基因突变流行病学数据,为发展适合的聋病基因筛查提供数据基础。方法收集220名散发非综合征型耳聋病例的外周血样本和临床资料;应用聚合酶链反应(PCR)和直接测序,对患者和150例正常对照进行GJB2、SLC26A4基因和线粒体12SrRNA突变检测。结果 1)220例患者中146(66.36%)例患者携带至少1个GJB2基因突变,35(15.91%)例患者携带至少1个SLC26A4基因突变,3(1.36%)例为线粒体A1555G突变。正常对照中3(2%)例携带GJB2致病突变。2)GJB2基因c.235delC(19.32%)突变是最常见的致病突变,其次是SLC26A4基因IVS7-2AG(9.09%)突变。3)检出的36种突变中,包括2种GJB2和1种SLC26A4新突变。结论本研究扩充了GJB2基因、SLC26A4基因和线粒体DNA A1555G突变在中国人群中的基因突变数据,并发现了3种新的突变,为分子诊断和扩展聋病基因筛查提供数据参考。
[Abstract]:Objective to analyze the frequency of mutations of GJB2,SLC26A4 gene and mitochondrial 12SrRNA in children with non-syndromic deafness and to expand the epidemiological data of common deafness gene mutations in Chinese population so as to provide a data basis for the development of suitable screening of deafness genes. Methods Peripheral blood samples and clinical data of 220 patients with sporadic non-syndromic deafness were collected and GJB2,SLC26A4 gene and mitochondrial 12SrRNA mutations were detected by polymerase chain reaction (PCR) and direct sequencing. Results 1) 146 (66.36%) patients carried at least one GJB2 gene mutation, 35 (15.91%) patients had at least one SLC26A4 gene mutation, and 3 (1.36%) had mitochondrial A1555G mutation. In normal controls, 3 (2%) cases carried GJB2 mutation. 2) c.235delC mutation of GJB2 gene (19.32%) was the most common pathogenic mutation, followed by SLC26A4 gene IVS7-2AG (9.09%) mutation. It includes two GJB2 and one new SLC26A4 mutation. Conclusion this study expanded the data of GJB2 gene, SLC26A4 gene and mitochondrial DNA A1555G mutation in Chinese population, and found three new mutations, which can provide data reference for molecular diagnosis and extended screening of deafness disease gene.
【作者单位】：武汉市妇女儿童医疗保健中心生殖医学实验室;武汉市妇女儿童医疗保健中心耳鼻咽喉科;湖北中医药大学;武汉市妇女儿童医疗保健中心妇产科门诊;
【基金】：武汉市青年科技晨光计划项目(200950431210)
【分类号】：R764.43

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