陕西省及周边地区非综合征性聋常见致聋基因突变频率分析.pdfVIP

CHIN ARCH OTOLARYNGOL HEAD NECK SURG / Februaη2015， Vo1.22 ,No.2 67 DOI: lO.l6066/j .l672-7002.2015.02.005 三噎告遣回酝垂垂翻E噩噩写· 陕西省及周边地区非综合征性聋常见致童基因突变频率分析 王剑，梁鹏飞，王淑娟，邱建华 西安西京医院耳鼻咽喉头颈外科，陕西 西安 710032 [摘要] 目的分析陕西省各地区及周边省非综合征性 were analyzed retrospectively to understand the molecular 聋患者常见耳聋基因突变方式及频率。方法采集陕西、 pathogenesis of deafness in the Northwest area of China. 甘肃及宁夏回族自治区共986例非综合征性聋患者外周血， METHODS Non-syndromic deafness patients within the 提取血液基因组DNA，对GJB2基因、 SLC26A4基因以及 Shanxi province (821 cases),Gansu province (1 11 cases) and 线粒体12S rRNA 1494以及1555位点进行直接测序，序列 Ningxia Hui Autonomous Region (54 cases) were sequenced 与NCBI网站标准序列比对分析。结果 本研究非综合征 for genes GJB2 , SLC26A4 and mitochondrial 12SrRNA 性聋患者包括陕西省821例，甘肃省III例，宁夏回族自治区 1494 and 1555 loci. Sequenced data were compared with 54例。其中GJB2基因双等位基因突变检出率陕西省19.85% NCBI website for analysis the formation of mutations. (163例) ，甘肃省18.92% (21例) ，宁夏回族自治区20.37% RESULTS Out of non-syndromic deafness patients , (1 1例) 0 GJB2基因最常见突变方式235delC检出率陕西省 double allele mutations of GJB2 gene as genetic etiology 13.46%，甘肃省13丑%，宁夏回族自治区1 1.1 1%0 SLC26A4 were found in 163 (1 9.85%) cases from Shanxi province , 基因双等位基因突变检出率陕西省14.74%，甘肃省1 1.71%， 21(18.92%) cases from Gansu province and 11 (20.37%)cases 宁夏回族自治区7.4 1%0 SLC26A4基因最常见突变方式 from Ningxia Hui Autonomous Region. The most frequent IVS7-2检出率陕西省7.31%，甘肃省9.46%，宁夏回族自治区 mutation of GJB2 gene was 235de1C , which carrying rate 0.93%。陕西省共15例携带线粒体均质性突变(1.83%) ，甘