本文選題：非綜合征型聾 + 突變　； 參考：《聽力學及言語疾病雜志》2017年04期

【摘要】：目的通過對甘肅省部分非綜合征型聾患者進行聾病易感基因篩查,從分子水平了解其遺傳病因及特點。方法采集甘肅省375例非綜合征型聾患者的外周靜脈血5~10ml,提取基因組DNA,運用SNPscan技術(shù)檢測GJB2基因2個外顯子36個突變位點、SLC26A4基因21個外顯子77個突變位點和mtDNA12SrRNA A1555G及C1494T突變。結(jié)果 375例非綜合征型聾患者中,23例攜帶mtDNA12SrRNA A1555G均質(zhì)性突變(6.13%,23/375),2例攜帶mtDNA12SrRNA C1494T均質(zhì)性突變(0.53%,2/375);檢出GJB2基因突變致聾者42例(11.20%,42/375),其中純合突變31例(8.27%,31/375)、復合雜合突變11例(2.93%,11/375),GJB2基因單雜合突變攜帶者25例(6.67%,25/375),c.235delC為最常見的突變類型,等位基因頻率為8.80%(66/750);檢出SLC26A4基因突變致聾者29例(7.73%,29/375),其中純合突變17例(4.53%,17/375)、復合雜合突變12例(3.20%,12/375),SLC26A4基因單雜合突變攜帶者14例(3.73%,14/375),c.919-2AG和c.2168AG為其最主要的突變類型,等位基因頻率分別為5.20%(39/750)和2.0%(15/750)。結(jié)論甘肅省部分非綜合征型聾患者mt DNA12SrRNA A1555G突變檢出率明顯高于全國水平(2.83%,57/2016),而GJB2、SLC26A4基因突變檢出率與全國水平相近;三個常見聾病易感基因篩查可為25.60%的本組耳聾患者提供明確的分子病因?qū)W診斷。
[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.
【作者單位】： 蘭州大學第二醫(yī)院耳鼻咽喉頭頸外科;甘肅省武威市中醫(yī)院;
【基金】：甘肅省自然科學基金(1606RJZA020)資助
【分類號】：R764.43

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