GJB2基因突变引起的显性遗传非综合征型耳聋家系研究

Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family

目的:检测一显性遗传非综合征型耳聋家系GJB2、GJB3、GJB6、SLC26A4、线粒体12SrRNA和线粒体tRNASer(UCN)等基因突变情况,探讨其基因型、表型和遗传学特征。方法:收集家系中先证者和部分亲属的临床资料,采集其外周血样本,并提取DNA。扩增GJB2、GJB3、GJB6、SLC26A4基因编码区和线粒体基因耳聋致病相关区域,并以直接测序法进行突变分析。结果:先证者和母亲均携带GJB2基因R75Q杂合突变,而其他检测基因未见致病突变。结论:GJB2基因R75Q突变引起先证者和母亲常染色体显性遗传非综合征型耳聋。R75Q能由亲代遗传至子代,基因检查的结果可为进一步生育指导提供帮助。

Objective：To investigate the genotype, phenotype and genetic features. The mutations in GJB2, GJB3, GJB6, SLC26A4 genes, 12SrRNA and tRNASer（UCN） were tested in a Chinese family with autosomal dominant nonsyndromic hearing loss. Method：Blood samples and clinical data of the proband and her partial family members were collected. DNA was extracted from the blood samples. The GJB2, GJB3, GJB6, SLC26A4 genes, 12SrRNA and tRNASer（UCN） mutations were analyzed by polymerase chain reaction（PCR） and direct sequen- cing. Result： Heterozygous mutation of GJB2 R75Q was identified in the proband and her mother. No mutation of other testing genes was detected. Conclusion：The R75Q mutation of the GJB2 gene cause autosomal dominant non- syndromic deafness in the proband and her mother. Children can inherit the R75Q mutation from their parents, so the results of gene testing will be helpful for further guidance of procreation.