SNPscan法用于新疆主要少数民族非综合征型聋患者GJB2基因突变筛查的研究

发布时间：2018-07-15 14:45

【摘要】：目的分析新疆主要少数民族非综合征型聋(nonsydromic hearing loss,NSHL)患者GJB2基因突变的流行病学及突变特征。方法采集新疆维吾尔自治区四个主要少数民族565例(维吾尔族428例,回族41例,哈萨克族64例,柯尔克孜族32例)中重度至极重度感音神经性聋患者的外周静脉血,提取基因组DNA,应用SNPscan法对GJB2基因40个已知突变位点进行筛查,并进行统计学分析。结果维吾尔族、回族、哈萨克族和柯尔克孜族NSHL患者GJB2基因的致病突变位点的等位基因频率分别为10.16%(87/856)、15.85%(13/82)、10.16%(13/128)、1.56%(1/64),其中,回族最高,维吾尔族和哈萨克族次之,柯尔克孜族最低,差异有统计学意义(χ2=8.140,P=0.043);c.235delC仅在维吾尔族和回族NSHL患者中发现,等位基因频率分别为5.14%(44/856)和13.41%(11/82)。而c.35delG在维吾尔族、回族、哈萨克族、柯尔克孜族NSHL患者中均有发现,等位基因频率分别为3.15%(27/856)、1.21%(1/82)、8.59%(11/128)和1.56%(1/64)。结论新疆维吾尔族、回族、哈萨克族及柯尔克孜族非综合征型聋患者GJB2基因突变发生率均较高,c.235delC是新疆地区维吾尔族和回族NSHL患者的热点突变,c.35delG是维吾尔族、哈萨克族和柯尔克孜族NSHL患者的热点突变。
[Abstract]:Objective to analyze the epidemiology and mutation characteristics of GJB2 gene mutation in patients with nonsyndromic deafness (nonsydromic hearing lossia NSHL) in Xinjiang. Methods Peripheral venous blood was collected from 565 patients with moderate to very severe sensorineural deafness (428 Uygur, 41 Hui, 64 Kazak and 32 Kirgiz) in Xinjiang Uygur Autonomous region. Genomic DNA was extracted and 40 known mutation sites of GJB2 gene were screened by SNPscan method and analyzed statistically. Results the allele frequencies of GJB2 gene in NSHL patients of Uygur, Hui, Kazak and Kirgiz were 10.16% (87 / 856), 15.85% (13 / 82), 10.16% (13 / 128) and 1.56% (1 / 64), respectively. The difference was statistically significant (蠂 ~ 2 / 8.140 / P ~ (0.043). Only 5.14% (44 / 856) and 13.41% (11 / 82) of alleles were found in Uygur and Hui NSHL patients. The allele frequencies of c. 35delG were 3.15% (27 / 856), 1.21% (1 / 82), 8.59% (11 / 128) and 1.56% (1 / 64), respectively. Conclusion the incidence of GJB2 gene mutation in Xinjiang Uygur, Hui, Kazak and Kirgiz non-syndromic deafness patients is higher than that in Xinjiang Uygur and Hui NSHL patients. Hot spot mutations in NSHL patients in Kazak and Kirgiz.
【作者单位】：兰州大学第二医院耳鼻咽喉头颈外科;甘肃省人民医院;甘肃省卫生厅;
【分类号】：R764.43

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