耳聋基因检测在遗传性耳聋诊断及遗传咨询中的应用  

The Application of Genetic testing of Deafness Genes in Hereditary Deafness Diagnosis and Genetic Counseling

作　　者：张昊昱[1] 张宁[1] 张华[2] 朱俊真[1] 

机构地区：[1]河北省人民医院三优中心 [2]秦皇岛市第一医院

出　　处：《中华耳科学杂志》2016年第5期639-643,共5页Chinese Journal of Otology

摘　　要：目的从基因检测确定耳聋发病原因,同时为受检者的婚育遗传咨询与干预措施提供依据。方法对来自7个家庭共21例自愿受检者进行检测前咨询告知其检测的目的方法及意义后,使用耳聋基因芯片和直接测序法对其进行耳聋基因检测。结果在21例受检者中检出1例GJB2 235del C纯合突变、4例复合杂合突变。2例GJB2 235del C与SLC26A4 IVS7-2A>G双重杂合突变。12例杂合突变(2例GJB2基因杂合突变,10例SLC26A4基因杂合突变),2例SLC26A4基因与GJB2基因未检出。并对不同发病原因,不同就诊需求的耳聋家庭提供准确遗传咨询、指导和干预。结论临床上检测遗传性耳聋的基因对于遗传咨询、生育聋儿风险率评估、产前诊断以及开展治疗等均可提供重要的指导作用。Objective To determine the cause of deafness through genetic testing, which can be used as the basis for genetic counseling and intervention measures provided to clients. Method After providing information of the purpose, methods, and significance of genetic testing, hereditary deafness gene chip and gene sequencing were used to test common deafness genes in 21 volunteers from 7 families. Results Among the 21 volunteers ,we found 1 case carrying homozygous GJB2 235delC mutation, 4 cases carrying compound heterozygous mutations, 2 cases carrying double heterozygous GJB2 235delC and SLC26A4 IVS7-2A〉G mutations,12 cases carrying simple heterozygous mutations （GJB2 mutations in 2 cases and SLC26A4 mutations in 10 cases）, and 2 cases showing no GJB2 or SLC26A4 mutations. Clients received genetic counsel-ing and intervention based on the particular etiologies and needs of each client. Conclusion Clinical deafness gene testing can provide efficient guidance for genetic counseling, evaluation of risk of birth of deaf babies, as well as prenatal diagnosis and intervention.

关 键 词：遗传性耳聋 基因检测 产前基因诊断 突变 遗传咨询 

分 类 号：R764[医药卫生—耳鼻咽喉科]