遗传性耳聋规范化筛查与诊断的探讨  

Standardized Screening and Diagnosis of Hereditary Hearing Loss

作　　者：袁永一[1,2,3,4] 戴朴 YUAN Yongyi;DAI Pu(Department of Otolaryngology,Head and Neck Surgery,Institute of Otolaryngology,Genetic Testing Center for Deafness,Chinese PLA General Hospital,28 Fuxing Road,Beijing 100853,China;National Clinical Research Center for Otolaryngologic Diseases;Key Lab of Hearing Impairment Science of Ministry of Education,Beijing,China;Key Lab of Hearing Impairment Prevention and Treatment of Beijing)

机构地区：[1]中国人民解放军总医院耳鼻咽喉头颈外科,解放军耳鼻咽喉研究所聋病分子诊断中心,北京100853 [2]国家耳鼻咽喉疾病临床医学研究中心 [3]聋病教育部重点实验室 [4]聋病防治北京市重点实验室

出　　处：《中华耳科学杂志》2019年第5期611-615,共5页Chinese Journal of Otology

基　　金：国家重点研发计划（2016YFC1000700,2016YFC1000704,2016YFC1000706）;国家自然科学基金重点项目（81730029）;国家自然科学基金面上项目（81873704）;北京市自然科学基金重点项目（7191011）;解放军总医院杰青培育专项（2017-JQPY-001)~~

摘　　要：先天性耳聋中60%由遗传因素导致,通过基因筛查明确遗传风险、通过基因诊断明确耳聋分子病因,能够阻断遗传性耳聋在家庭内的垂直传递,是耳聋防控的有效手段。本文就耳聋基因诊断方法和检测基因范围的选择、新生儿耳聋基因筛查和携带者筛查的意义及筛查位点纳入原则、检测前及检测后遗传咨询等进行探讨,期望促进遗传性耳聋规范化筛查与诊断的开展。Genetic factors account for 60%of etiology in congenital hearing loss.Genetic screening and diagnosis are efficient ways to identify risks and molecular etiology for hereditary hearing loss.To promote the adoption of standardized screening and diagnosis of hereditary hearing loss,we discuss choices of techniques and genes to be tested,the significance of genetic screening in newborns and carrier screening,principles in selecting target alleles,and preand post-testing genetic counseling in this paper.

关 键 词：遗传性耳聋 基因诊断 基因筛查 产前诊断 胚胎植入前诊断 

分 类 号：R764[医药卫生—耳鼻咽喉科]