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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 detect the gene mutations of GJB2, GJB3, GJB6, SLC26A4, mitochondrial 12SrRNA and mitochondrial tRNASer (UCN) in a family of dominant hereditary nonsyndromic deafness and discuss the genotypes, phenotypes and genetic features. Methods: The clinical data of probands and relatives in the family were collected, peripheral blood samples were collected and DNA was extracted. GJB2, GJB3, GJB6, SLC26A4 gene coding region and deafness related gene of mitochondrial gene were amplified and analyzed by direct sequencing. Results: The probands and mothers all carried the heterozygous mutation of GJB2 gene R75Q, but no other disease-causing mutations were detected in other genes. Conclusion: GJB2 gene R75Q mutation caused probands and mothers autosomal dominant nonsyndromic deafness. R75Q can be inherited from offspring to offspring and the results of genetic tests can be helpful for further guidance of fertility.