137个遗传性聋小家系的聋病分子流行病学研究  

Molecular Epidemiology Study of 137 Small Pedigrees with Hereditary Hearing Loss

作　　者：鲍晓林[1] 郭玉芬[2] 刘晓雯[2] 徐百成[2] 郭家亮[1] 孙蔷[1] 

机构地区：[1]天津市泰达医院耳鼻咽喉头颈外科,天津300457 [2]兰州大学第二医院耳鼻咽喉头颈外科

出　　处：《听力学及言语疾病杂志》2010年第6期556-558,共3页Journal of Audiology and Speech Pathology

摘　　要：目的探讨遗传性聋家系患者中GJB2基因、线粒体DNA 12SrRNA A1555G和SLC26A4基因的突变携带率。方法对137个遗传性聋小家系170名耳聋患者进行病史采集、听力学检测与评估及遗传学分析,抽取外周静脉血5～10ml,提取白细胞DNA,采用PCR进行GJB2基因、线粒体DNA 12SrRNA A1555G和SLC26A4基因扩增和测序。结果遗传性聋小家系患者GJB2基因、线粒体DNA 12SrRNA A1555G位点和SLC26A4基因的突变率分别为14.11%(24/170)、9.41%(16/170)和8.82%(15/170)。结论线粒体DNA 12SrRNA A1555G、GJB2基因的235delC、SLC26A4基因的IVS7-2A>G和GJB2基因299-300delAT是遗传性聋小家系患者中最常见的突变基因型。Objective To explore the mutation frequencies of the GJB2,mitochondrial DNA 12SrRNA A1555G and SLC26A4 genes in patients in small pedigrees with hereditary hearing loss.Methods To analyze the medical history,audiological and genetic data,genomic DNA were extracted from the peripheral vein blood to detect the GJB2,mitochondrial DNA 12SrRNA A1555G and SLC26A4 gene.Results The mutation frequencies of the GJB2,mitochondrial DNA 12SrRNA A1555G and SLC26A4 gene were 14.11%,9.41% and 8.82%,respectively.Conclusion The mutations of 235del C and 299del AT of the GJB2,mitochondrial DNA 12SrRNA A1555G and IVS7-2A〉G of SLC26A4 gene were the common disease-causing mutations in small pedigrees with hearing loss.

关 键 词：遗传 家系 聋 基因 

分 类 号：R764.5[医药卫生—耳鼻咽喉科]