广东省部分地区非综合征性耳聋患者GJB2和SLC26A4基因突变位点分析

Analysis on GJB2 and SLC26A4 gene mutation sites in patients with non-syndromic hearing loss in some regions of Guangdong Province

目的对广东省部分地区非综合征性耳聋(NSHL)患者进行GJB2和SLC26A4基因检测和分析,了解广东地区耳聋基因的主要突变热点,为规范NSHL的基因筛查诊断和治疗提供理论依据。方法收集广东省部分地区NSHL患者外周血样本100份,使用聚合酶链反应(PCR)-流式荧光检测技术,检测人全血样本DNA中GJB2、SLC26A4基因的14种突变,并对突变位点进行分析。结果在100例NSHL患者中共检出34例耳聋基因突变,突变检出率为34.00%(34/100)。其中GJB2基因突变携带者34例,检出率为34.00%,其中主要为c.109 G>A突变,占91.17%(31/34);SLC26A4基因突变携带者2例,检出率为2.00%。34例突变携带者中包括纯合突变11例,单基因杂合突变23例,多基因复合突变2例。结论广东省部分地区NSHL患者主要耳聋致病基因为GJB2,其中以c.109G>A突变为最常见,检出率高于全国水平。该研究为该地区耳聋的基因诊断、预防和治疗提供理论依据。

Objective To test and analyze GJB2 and SLC26A4 genes in patients with non-syndromic hearing loss(NSHL)in some regions of Guangdong Province,and to understand the main mutation hotspots of deafness genes in Guangdong Province,so as to standardize gene screening for NSHL and provide theoretical basis for diagnosis and treatment.Methods A total of 100 peripheral blood samples from NSHL patients in Guangdong Province were collected and 14 mutations of GJB2 and SLC26A4 genes were detected by polymerase chain reaction(PCR)-flow cytometry and the mutation sites were analyzed.Results A total of 34 cases of deafness gene mutation were detected in 100 cases of NSHL patients,and the mutation detectable rate was 34.00%(34/100).There were 34 cases of GJB2 gene mutation carriers,the detectable rate was 34.00%(34/100),mainly c.109G>A mutation,accounting for 91.17%(31/34).There were two carriers of SLC26A4 gene mutation,the detectable rate was 2.00%.Among the 34 cases of mutation carriers,11 cases were homozygous,23 cases were monozygous,and 2 cases were polygenic complex.Conclusions The main pathogenic gene of NSHL patients in Guangdong Province is GJB2,among which c.109G>A mutation is the most common,and the detectable rate is higher than the national level.This study provides theoretical basis for genetic diagnosis,prevention and treatment of deafness in this region.