江西地区100例儿童非综合征型耳聋基因突变筛查分析  

Screeing and analysis of deafness gene mutations among children from Jiangxi Province with non-syndromic hearing loss

作　　者：邹俊[1] 胡妮娅[2] 彭新[1] 郭晨[1] ZOU Jun;HU Niya;Pengxin(Jiangxi Province Children's Hospital of Orthopaedics Nanchang 330006 China;Department of Clinical Laboratory,First Affiliated Hospital of Nanchang University Nanchang 330006 China)

机构地区：[1]江西省儿童医院外科,南昌330006 [2]南昌大学第一附属医院检验科,南昌330006

出　　处：《江西医药》2019年第9期993-995,1003,共4页Jiangxi Medical Journal

基　　金：江西省卫计委科技计划资助项目，编号20191106

摘　　要：目的了解江西地区耳聋基因热点突变谱系及发生频率。方法针对100例江西地区非综合征型耳聋患儿,提取患儿外周静脉血基因组DNA,应用Sequenom MassArray iPLEX检测系统检测中国人群中常见的4个耳聋相关基因(包括GJB2、SLC26A4、GJB3及12SrRNA)的20个突变位点,并将阳性结果进行测序验证。结果100例耳聋患儿中,共检测出10例患儿携带突变基因(10%),GJB2基因突变5例(5%),其中176_191del16杂合突变1例,235delC杂合突变3例,235delC纯合突变1例;SLC26A4基因突变5例(5%),皆为IVS7-2A>G位点突变,其中杂合突变3例,纯合突变2例。其他位点均为发现突变,测序验证结果与本实验结果一致。结论本次研究的100例江西地区耳聋患儿样本中,热点突变基因以GJB2和SLC26A4基因为主,与国内外报道的基本一致。Objective To investigate the mutational lineages and frequency of deafness genes in deafness in Jiangxi Province.Methods A total of 100 children with non-syndromic hearing loss in Jiangxi Province were enrolled.The genomic DNA of peripheral venous blood was extracted from children.The Sequenom MassArray iPLEX detection system was used to detect four common deafness-related genes in Chinese population (including GJB2, SLC26A4, GJB3 and 12S rRNA).20 mutation sites, and the positive results were sequence verified.Results Of the 100 children with deafness, 10 patients had mutations (10%) and 5 (5%) GJB2 mutations, including 1 176_191del16 heterozygous mutation and 3 235delC heterozygous mutations.235delC pure There were 1 case of mutation;5 cases (5%) of SLC26A4 gene mutation were all IVS7-2A>G site mutations, including 3 heterozygous mutations and 2 homozygous mutations.All other sites were found to be mutations, and the results of sequencing verification were consistent with the results of this experiment.Conclusion In the 100 children with deafness in Jiangxi Province, the hot-spot mutations were mainly GJB2 and SLC26A4 genes, which were basically consistent with those reported at home and abroad.

关 键 词：非综合征型耳聋 GJB2基因 SLC26A4基因 MassArray核酸质谱技术 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]