先天性耳聋167例分子病因学分析  

Analyze of the couse of congenital hearing loss in the level of molecule for 167 patients

作　　者：赵恒静 纪育斌[2] 王秋菊[2,3] 李红辉 赵翠[3] 

机构地区：[1]柳州市妇幼保健院,广西柳州545001 [2]解放军总医院耳鼻咽喉头颈外科,北京100853 [3]国家人类基因组北方研究中心,北京100176

出　　处：《中国儿童保健杂志》2009年第5期511-513,共3页Chinese Journal of Child Health Care

基　　金：国家自然基金重点项目(30830104);国家863项目(2006AA02Z181);国家"十一五"科技支撑计划(2006BAI02B06&2007BAI18B12);柳州市科技攻关基金项目(2008031403)

摘　　要：【目的】通过对柳州地区167例先天性聋患者三种常见耳聋易感基因GJB2，线粒体DNA 12SrRNAA1555G和SLC26A4（PDS）基因突变检测数据分析，探讨该地区先天性耳聋患者中耳聋易感基因突变频率并作机理分析。【方法】对新生儿（NICU）听力筛查未通过者和门诊散发确诊为先天性耳聋患者，采集静脉血样，采用PCR扩增及限制酶切技术进行耳聋易感基因检测。【结果】167例患者中有1例（0．6％）线粒体DNA1555G突变，2例（1．2％）GJB2 235delC纯合突变，1例235delC杂合突变，1例299～300delAT杂合突变；SLC26A4基因IVS7—2A〉G杂合突变10例（5．7％）。总体分子水平上能明确诊断或强烈提示遗传性耳聋者占9％。【结论】柳州市先天性耳聋患者中三种耳聋常见易感基因致病突变频率均低于全国平均水平。聋病相关基因的检出对于聋病病因学分析、防聋治聋、降低耳聋的发病率具有明确的指导意义。[Objective] To analyse the datas of detection of gene mutation about three common susceptive genes related hearing loss： GJB2 235delc and mitochondrial DNA （mtDNA） 1555G mutations and enlarged vestibular aqueducts SLC26A4 in 167 patients of Liuzhou area for investigating the cause of deafness and the deaf susceptive gene mutation fre quency and make a mechanism analysis. [Methods] Total 167 patients with congenital hearing loss diagnosed by audito- ry results were collected including the newborns Intensive Care Unit, NICU and sporadic out-patients. The peripheral blood samples of all patients were drawn,DNA and amplified the aim fragments were extracted by using PCR amplification techniques. The common mutational hot spots of the mitochondrial DNA 12SrRNA,GJB2 and SLC26A4 were detected by re stricted enzyme and directed sequencing. [Results] 1 case was found to carry of mtDNA 1555G, and the positive rate was 0.6 %. 4 patients carriers of heterozygotes or homozygotes pathologic mutations of GJB2 gene and the positive rate was 2.4%. 10 patients were heterozygote carriers of pathologic mutations of enlarged vestibular aqueducts （IVS7-2 A〉G） and the positive rate was 5.7%. The detection rate of GJB2 235delC and mitochondrial DNA （mtDNA） 1555G and SLC26A4 （IVS7-2 A〉G） which had a strong indicate in genetic deafness was 9%. [Conclusions] Three common susceptible deaf genes pathogenic mutation frequency of the congenital deafness in patients of Liuzhou area are all lower than the national average. Genes test effectively helps analyse the cause of deafness, which benefits the prevention and treatment of deafness, and as a clear guide, to reduce the incidence of deafness.

关 键 词：先天性 耳聋 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]