小儿非综合征型耳聋59例基因突变筛查分析

发布时间：2018-01-24 04:47

本文关键词： 遗传性耳聋非综合征型耳聋热点突变基因诊断基因芯片　出处：《中国实用儿科杂志》2014年02期 　论文类型：期刊论文

【摘要】：目的筛查小儿非综合征型耳聋基因热点突变,初步了解耳聋基因热点突变谱系及发生频率。方法收集2010年1月至2012年12月沈阳市妇女儿童保健中心收治的非综合征型耳聋患儿59例,经知情同意后,抽取外周静脉全血并提取基因组DNA,应用耳聋微阵列芯片检测中国人群中常见4个耳聋基因的9个突变位点,具体包括GJB2基因(235 del C、176 del 16、299 del AT和35 del G)、SLC26A4基因(IVS 7-2 AG、2168 AG)、线粒体mtDNA 12S rRNA基因(1494 CT、1555 AG)、GJB3基因(538 CT),分析检测结果。结果59例非综合征型耳聋患儿GJB2基因、SLC26A4基因、mtDNA 12S rRNA 1555 AG基因突变检出率分别为25.4%、15.3%、0。具体包括:GJB2基因235 del C纯合突变型2例;GJB2基因235 del C/299 del AT复合杂合突变型3例;GJB2基因235delC/176 del 16复合杂合突变型1例;GJB2基因235 del C杂合突变型7例;GJB2基因299 del AT纯合突变型1例;SLC26A4基因IVS 7-2 AG纯合突变型5例;SLC26A4基因IVS 7-2 AG杂合突变型3例;GJB2基因235 del C/299 del AT,SLC26A4基因2168 AG复合杂合突变型1例。59例中无mtDNA 12S rRNA基因1555 AG均质型突变和GJB3突变。GJB2基因突变中,极重度组和重度组检出率较高(43.8%和41.7%),其次是中度组10.5%、轻度组8.3%,差异有统计学意义(P0.05)。SLC26A4基因突变中,重度组检出率较高,为41.7%,其次为中度组10.5%、轻度组8.3%和极重度组6.3%,差异有统计学意义(P0.05)。结论本次研究耳聋患儿热点突变基因以GJB2基因和SLC26A4基因为主,在双耳重度、极重度耳聋患儿的阳性检出率较高。应重视对儿童人群常规耳聋基因的筛查诊断。
[Abstract]:Objective to screen hot spot mutations of gene for non-syndromic deafness in children. Methods 59 cases of non-syndromic deafness were collected from January 2010 to December 2012 in Shenyang Women and Children Health Center. After informed consent, peripheral venous whole blood was extracted and genomic DNA was extracted. Nine mutation sites of 4 common deafness genes in Chinese population were detected by microarray microarray. It includes the GJB2 gene (235#en1# Cn176 del 16,299 del AT and 35 del G). SLC26A4 gene (IVS7-2 AGN 2168 AGN, mitochondrial mtDNA 12S rRNA gene 1494 CT1555 AGV). Results 59 cases of non-syndromic deafness children with GJB2 gene SLC26A4 gene were analyzed. The detection rate of mtDNA 12s rRNA 1555 AG gene mutation was 25.4%. 0. Two cases of homozygous mutation of 235GJB2 gene in del C were included. GJB2 gene 235 del C / 299 del AT complex heterozygosity was found in 3 cases. One case of GJB2 gene 235delC / 176 del 16 complex heterozygosity; 7 cases of GJB2 gene 235 del C heterozygosity; GJB2 gene 299 del AT homozygous mutation in 1 case; SLC26A4 gene IVS 7-2 AG homozygous mutation in 5 cases; The heterozygosity of SLC26A4 gene IVS 7-2 AG was found in 3 cases. GJB2 gene 235 del C / 299 del AT. SLC26A4 gene 2168AG combined heterozygosity: a case report. 59 cases without mtDNA 12s rRNA gene 1555. AG homotypic mutation and GJB3 mutation. GJB2 gene mutation. The detection rate of extremely severe group and severe group was 43.8% and 41.7%, followed by moderate group 10.5% and mild group 8.3%. Among the mutation of P0.05, SLC26A4 gene, the positive rate of severe group was 41.7%, followed by 10.5% in moderate group. The difference between mild group (8.3%) and extremely severe group (6.3%) was statistically significant (P 0.05). Conclusion GJB2 gene and SLC26A4 gene are the main genes of hot spot mutation in children with deafness in this study. The positive rate of deafness was higher in children with severe and extremely severe binaural deafness, so we should pay more attention to the screening and diagnosis of conventional deafness genes in children.
【作者单位】：沈阳市妇女儿童保健中心;
【基金】：2011年沈阳市卫生局科研课题
【分类号】：R764
【正文快照】： 耳聋是影响人类健康和造成人类残疾的常见原因。随着人类基因组计划的顺利完成,关于遗传性耳聋方面的研究也取得相应进展。据统计,每1000名新生儿中就有1~3例耳聋儿童,其中一半以上为遗传性耳聋[1]。在大量迟发性听力下降患者中,亦有许多患者由于自身基因缺陷导致,或由于基因

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