湖北地区非综合征型学语前聋患儿GJB2基因突变的分子流行病学研究

Molecular epidemiological study on GJB2 gene mutation of children with prelingual nonsyndromic hearing impairment in Hubei

目的:探讨G JB2基因突变在中国湖北地区非综合征型学语前聋患儿中的突变频率及主要的突变方式。方法:采集中国湖北地区986例非综合征型语前聋患儿血样,应用PCR技术扩增G JB2基因的编码区,PCR产物进行直接测序,运用Chrom as软件进行测序结果分析。结果:986例患儿中共检测到138例发生G JB2基因突变,突变率为14.00%(138/986),其中双等位基因纯合或复合杂合突变率为6.19%(61/986),235delC约占所有突变的77.61%(156/201)。结论:在中国湖北地区非综合征型学语前聋患儿中,235delC是G JB2基因最常见的突变方式,针对该位点的产前基因诊断将是该地区降低语前聋发生的有效手段。

Objective： To explore the frequency and manner of GJB2 gene mutation in children with prelingual nonsyndromic hearing impairment in Hubei. Methods ： The blood samples of 986 children with prelingual nonsyndromic hearing impairment from Hubei were collected, PCR technique was used to amplify the coding region of GJB2 gene, then direct gene sequencing was used to analyze the PCR products, the results of gene sequencing were analyzed with Chromas software. Results： Among 986 children with prelingual nonsyndromic hearing impairment, 138 children were found with GJB2 gene mutation （ 14. 00 % ） , the rate of di - allele homozygous mutation and com- pound heterozygous mutation was 6. 19 % （61/986）, 235delC mutation accounted for 77. 61% （ 156/201 ） . Conclusion; Among the chil- dren with prelingual nonsyndromic hearing impairment in Hubei, 235delc mutation is the most common type of GJB2 gene mutation, prenatal genetic diagnosis targeted to the locus will be an effective method to reduce the incidence of prelingual nonsyndromic hearing impairment.