摘要： 目的 应用基因芯片对沈阳地区非综合征性先天性重度及以上感音神经性听力损失儿童及其父母进行耳聋相关基因检测，了解沈阳地区耳聋儿童常见的致聋基因。方法 应用遗传学耳聋基因芯片，对来自沈阳地区的50例非综合征性先天性感音神经性听力损失患儿及其父母进行我国人群中比较常见的4个耳聋基因（GJB2、GJB3、SLC26A4、mtDNA）中13个突变热点的基因检测。结果 150例受检者中，发现24个家庭的63例筛查结果阳性，其中，GJB2基因235delC纯合突变5例，235delC杂合突变20例，176del16杂合突变2例，299delAT杂合突变1例；SLC26A4基因IVS7-2A>G纯合突变3例，IVS7-2A>G杂合突变19例，2168A>G杂合突变10例，1229C>T杂合突变2例，IVS7-2A>G、1229C>T杂合突变1例。50例受检儿童中，24例（48%）检出基因突变，其中，GJB2基因突变11例（235delC纯合突变5例，杂合突变5例，176del16杂合突变1例），SLC26A4基因突变13例（IVS7-2A>G纯合突变4例，杂合突变4例，2168A>G杂合突变4例，IVS7-2A>G、1229C>T杂合突变1例）。结论 沈阳地区儿童先天性耳聋基因以SLC26A4基因和GJB2基因突变为主。

沈阳地区50例听力损失儿童及其父母耳聋基因芯片筛查结果分析

王晶, 惠莲

中国医科大学附属第一院耳鼻喉科, 沈阳 110001

收稿日期:2019-03-13出版日期:2020-03-30发布日期:2020-03-19
通讯作者:惠莲E-mail:huilian613@126.com
作者简介:王晶(1993-),女,硕士研究生.



关键词: GJB2, GJB3, SLC26A4, mtDNA, 听力损失, 儿童
Abstract: Objective To detect deafness-related genes in children with non-syndromic congenital severe hearing loss and their parents using a gene chip and identify the genes most commonly underlying childhood deafness in Shenyang,China. Methods We applied a heritable deafness gene chip to genetic analysis of 50 patients in the Shenyang area with non-syndromic congenital sensorineural hearing loss and their parents to assess the frequency of mutations in 13 deafness associated hotspots in four genes (GJB2,GJB3,SLC26A4,and mtDNA) that are more common in deaf patients in China. Results Of the 50 fanmilies tested in Shenyang,24 were found positive in gene mutations. We detected 11 GJB2 gene mutations (five GJB2 235delC homozygous mutations,five heterozygous mutations,and one 176del16 heterozygous mutation),13 SLC26A4 gene mutations (four cases with SLC26A4 IVS7-2A >G homozygous mutations,four cases with 2168A >G heterozygous mutations,five cases with IVS7-2A >G,and one case heterozygous for 1229C >T). Conclusion SLC26A4 and GJB2 gene mutations are the main causes of congenital deafness in the Shenyang region.
Key words: GJB2, GJB3, SLC26A4, mtDNA, hearing loss, children
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