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

Mutations of GJB2,SLC26A4,and mitochondrial DNA 12S rRNA in Children with non-syndromic hearing loss in Hubei Province of China

作　　者：戴翔[1] 李隽[2] 胡雁婻 童静[1] 曹江霞[4] 刘丽平[4] 

机构地区：[1]武汉市妇女儿童医疗保健中心生殖医学实验室,湖北武汉430016 [2]武汉市妇女儿童医疗保健中心耳鼻咽喉科,湖北武汉430016 [3]湖北中医药大学,湖北武汉430065 [4]武汉市妇女儿童医疗保健中心妇产科门诊,湖北武汉430016

出　　处：《中国儿童保健杂志》2014年第10期1031-1035,1046,共6页Chinese Journal of Child Health Care

基　　金：武汉市青年科技晨光计划项目(200950431210)

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IVS7-2A>G(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。Objective To examine the mutation frequencies of deafness genes GJB2,SLC26A4,and mitochondrial DNA （mtDNA） 12S rRNA in children associated with non-syndromic hearing loss, and to expand data base of mutation in Chi- nese,for development of optimal genetic screening services for hearing impairment. Methods Blood samples and clinical data of 220 sporadic cases with non-syndromic hearing loss and 150 normal controls were collected. The GJB2, SLC26A4, and mtDNA t2S rRNA gene of the patients and normal controls were amplified by polymerase chain reaction（PCR）, then subjected to automatic DNA sequencing. Results Analysis revealed that 146（66.36%） and 35（15.91%） of 220 patients with hearing loss carried at least 1 mutant allele in GJB2 and SLC26A4 respectively,and 3（1.36%） patients carried mtDNA A1555G mutations. Overall 36 mutations were detected in this cohort of patients,including 2 novel mutations in GJB2 and 1 novel mutation in SLC26A4 respectively. GJB2 gene c. 235de1C （19.32 %） and SLC26A4 gene IVST-2A〉 G （9.09 G ） were the most common pathogenic mutation. 3（2%） of 150 normal control carried pathogenic mutations in GJB2 gene. Conclu- sion This research demonstrated that a high prevalence of GJB2,SLC26A4,and mtDNA A1555G mutations in Chinese chil- dren with non-syndromic hearing loss, and expanded data base of common gene of deafness, and discovered 3 novel muta- tions,which provided basic information for the molecular diagnosis and gene screening of deafness.

关 键 词：非综合征型耳聋 GJB2 SLC26A4 线粒体12S rRNA 突变 

分 类 号：R729[医药卫生—儿科]