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

Screeing Using SNPscan Method for GJB2 Gene Mutation among Non-syndromic Deaf Patients of the Dominant Ethnic Minorities in Xinjiang

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。

Objective To investigate the prevalence and characteristics of GJB2 mutations in Uygur,Hui, Kazak and Kirgiz ethnic patients with non-syndromic hearing loss（NSHL）from the Xinjiang Uygur Autonomous Region of China.Methods With the permission,we collected 565 patients with moderately severe to profound sen-sorineural hearing loss,including Uygur,Hui,Kazak and Kirgiz ethnic minorities from 14 cities of Xinjiang.Pe-ripheral blood samples were obtained to extract genomic DNA.The SNP classification technology was for common pathogenic GJB2 gene mutations.ResuIts The pathogenic allele frequency of GJB2 gene were 10.16%（87/856 ）, 15.85%（13/82）,10.16%（13/128）,1.56%（1/64）in the NSHL patients of Uygur,Hui,Kazak and Kirgiz minori-ties,respectively.And these differences were statistically significant （χ^2=8.140,P=0.043）.c.235delc was only found in the Uygur and Hui with the allele frequency of 5.14 %（44/856）and 13.41 %（11/82）,respectively.And c.35delG was found in Uyhur,Hui,Kazak and Kirgiz with allele frequencies were 3.15% （27/856）,1.21% （1/82）,8.59%（11/128）and 1.56% （1/64）,respectively.ConcIusion GJB2 gene mutations had a higher incidence in Xinjiang NSHL patients,GJB2 gene mutation spectrum had differences in Uygur,Hui,Kazak and Kirgiz,c. 235delC the hotspot mutation region in Uygur and Hui nationalities NSHL patients,while c.35delG is the hotspot mutation region in NSHL patients of Uygur,Kazak and Kirgiz ethnicities.