Analysis common gene mutation spots of 127 non-syndromic deafness patients in Guangxi province
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摘要: 目的: 分析广西地区127例非综合征性聋患者常见致聋基因的突变特点。方法: 采用遗传性聋基因芯片试剂盒对广西地区127例非综合征性聋患者基因组DNA的4个常见致聋基因的15个突变位点进行检测,对未确诊的阳性结果进行基因全序列分析进一步明确病因。结果: 127例非综合征性聋患者致聋基因突变率为8.66%(11/127);其中GJB2 235delC纯合突变3例(2.36%),单杂合突变2例(1.57%);GJB2 235delC/109 A>G复合杂合突变2例(1.57%);SLC26A4 1229C>T纯合突变1例(0.79%),IVS7-2A>G/IVS11+47T>C/1548insC复合杂合突变2例(1.57%);GJB3 538C>T 单杂合突变1例(0.79%),未检出线粒体12S rRNA基因突变。结论: GJB2和SLC26A4是本组非综合征性聋患者最常见的突变基因,突变率明显低于全国平均水平,其中SLC26A4 IVS11+47T>C、1548insC和GJB2 109 A>G是3个新发现的突变位点,广西地区可能存在罕见的致聋基因突变位点。Abstract: Objective: To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province.Method: Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes,and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations. Result: Among the 127 patients with non-syndromic deafness,the total mutation rate is 8.66% (11/127),including GJB2 235delC homozygous in 3 cases (2.36%),235delC single heterozygous mutation in 2 cases (1.57%),GJB2 235delC and 109 A>G mutations in 2 cases (1.57%);SLC26A4 1229C>T homozygous in 1 case (0.79%),IVS7-2A>G、IVS11+47T﹥C and 1548insC mutations in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study,and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11+47T>C、1548insC and GJB2 109A>G)were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
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Key words:
- non-syndromic deafness /
- deafness gene /
- DNA microarray
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