甘肃省375例非综合征型聋患者聋病易感基因突变检测分析

发布时间：2018-06-22 00:43

本文选题：非综合征型聋 + 突变　；参考：《听力学及言语疾病杂志》2017年04期

【摘要】：目的通过对甘肃省部分非综合征型聋患者进行聋病易感基因筛查,从分子水平了解其遗传病因及特点。方法采集甘肃省375例非综合征型聋患者的外周静脉血5~10ml,提取基因组DNA,运用SNPscan技术检测GJB2基因2个外显子36个突变位点、SLC26A4基因21个外显子77个突变位点和mtDNA12SrRNA A1555G及C1494T突变。结果 375例非综合征型聋患者中,23例携带mtDNA12SrRNA A1555G均质性突变(6.13%,23/375),2例携带mtDNA12SrRNA C1494T均质性突变(0.53%,2/375);检出GJB2基因突变致聋者42例(11.20%,42/375),其中纯合突变31例(8.27%,31/375)、复合杂合突变11例(2.93%,11/375),GJB2基因单杂合突变携带者25例(6.67%,25/375),c.235delC为最常见的突变类型,等位基因频率为8.80%(66/750);检出SLC26A4基因突变致聋者29例(7.73%,29/375),其中纯合突变17例(4.53%,17/375)、复合杂合突变12例(3.20%,12/375),SLC26A4基因单杂合突变携带者14例(3.73%,14/375),c.919-2AG和c.2168AG为其最主要的突变类型,等位基因频率分别为5.20%(39/750)和2.0%(15/750)。结论甘肃省部分非综合征型聋患者mt DNA12SrRNA A1555G突变检出率明显高于全国水平(2.83%,57/2016),而GJB2、SLC26A4基因突变检出率与全国水平相近;三个常见聋病易感基因筛查可为25.60%的本组耳聋患者提供明确的分子病因学诊断。
[Abstract]:Objective to investigate the genetic causes and characteristics of deafness in some non-syndromic deafness patients in Gansu province. Methods the genomic DNA was extracted from peripheral venous blood of 375 patients with non-syndromic deafness in Gansu province. SNPscan technique was used to detect 77 mutation sites of 21 exons of GJB2 gene and 21 exons of SLC26A4 gene, and mutations of mtDNA12SrRNA A1555G and C1494T. Results among 375 cases of non-syndromic deafness, 23 cases carried mtDNA 12SrRNA A1555G homogeneity mutation (6.13 / 375) and 2 cases carried mtDNA12SrRNA C1494T homogeneity mutation (0.53% 375), 42 cases (11.2042r375) were found to have deafness caused by GJB2 gene mutation, 31 cases were homozygous mutation (8.272r31P / 375), 11 cases were complex heterozygous mutation (2.933T / 375) GJB2 gene mutation was detected in 42 cases (11.2042p375). The single heterozygous mutation carriers in 25 cases (6.67% / 375) were the most common mutation type. The frequency of alleles was 8.80% (66 / 750), and 29 cases (7.7329 / 375) of the deafness caused by SLC26A4 gene mutation were detected, of which 17 were homozygous mutations (4.5317 / 375), and 14 (3.20 / 12375) single heterozygosity carriers of SLC26A4 gene were found to be carriers of single heterozygosity of SLC26A4 gene (3.73B / 14375). The allele frequencies were 5.20% (39 / 750) and 2.0% (15 / 750), respectively, and the allelic frequencies were 5.20% (39 / 750) and 2.0% (15 / 750), respectively.The allele frequencies were 5.20% (39 / 750) and 2.0% (15 / 750), respectively. Conclusion the detection rate of mt DNA 12s rRNA A1555G mutation in some non-syndromic deafness patients in Gansu Province was significantly higher than that in the whole country (2.83%, 57% 2016), while the detection rate of GJB _ 2 / SLC26A4 gene mutation was similar to that of the whole country. Three common deafness susceptibility gene screening can provide a definite molecular etiology diagnosis for 25.60% of the deafness patients.
【作者单位】：兰州大学第二医院耳鼻咽喉头颈外科;甘肃省武威市中医院;
【基金】：甘肃省自然科学基金(1606RJZA020)资助
【分类号】：R764.43

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