72个耳聋高危家庭耳聋基因筛查及遗传病学研究  

Deafness Gene Screening and Genetic Assessment in 72 Families with High Risks for Deafness

作　　者：万薇 余蓉 江红群[1] WAN Wei;YU Rong;JIANG Hongqun(First Affiliated Hospital of Nanchang University,JiangXi,Nanchang,China,330006)

机构地区：[1]南昌大学第一附属医院耳鼻咽喉头颈外科

出　　处：《中华耳科学杂志》2019年第5期655-660,共6页Chinese Journal of Otology

摘　　要：目的总结72个耳聋高危家庭的耳聋相关基因的携带状况和遗传规律等信息,评估耳聋易感基因检测对生育前遗传咨询和指导的临床意义。方法对2019年1月至6月72个耳聋高危家庭通过耳聋基因芯片对4个常见耳聋基因中的9个位点(GJB2基因中的35delG、176del16、235delC、299_300delAT,GJB3基因中的538 C>T,SLC26A4基因中的2168A>G、919-2A>G及线粒体12S rRNA基因中的1494C>T、1555A>G)进行检测。为所有参与家庭提供耳聋基因报告,进一步检测到存在致病突变的家庭提供产前诊断。结果在72个耳聋高危家庭中,有18个家庭发现了相关的致病突变。共有9个家庭检测出GJB2基因突变,其中6个家庭检测出GJB2单杂合突变(8.33%),3个家庭检测出GJB2复合杂合突变(4.17%);共有5个家庭检测出SLC26A4基因突变,其中3个家庭为SLC26A4 919-2A>G单杂合突变(4.17%),2个家庭检测出SLC26A4 919-2A>G纯合突变(2.78%);有3个家庭检测出线粒体12S rRNA基因均质突变(4.17%);另有1个家庭为多基因复合突变(1.39%),母亲GJB2复合杂合突变,父亲为GJB2、GJB3及SLC26A4多基因多位点杂合突变,孩子被检测为GJB3及SLC26A4多基因复合杂合突变。结论通过对高危家庭进行耳聋基因筛查,可以为高风险家庭的夫妇的生育计划提供帮助,实现“早筛查,早诊断,早干预”策略。Objective To summarize the information on the status and heredity law of deafness-related genes in high-risk families,and to evaluate the validity for prenatal diagnosis at a clinic.Methods We studied the deafness gene chips from 72 high-risk families of deafness that were treated in the department of Otolaryngology,the First Affiliated Hospital of Nanchang University,between January to June 2019,the chip contains 9 of the 4 common deafness genes(35delG,176del16,235delC,299_300delAT in the GJB2 gene,538 C>T in the GJB3 gene,2168A>G,919-2A>G in the SLC26A4 gene and 1494C>T,1555A>G in the mtDNA12S rRNA gene).Providing deafness gene reports to all participating families,in order to offer prenatal diagnosis for family who was positive for deafness gene mutations.Results In this study,a total of 72 high-risk families with deafness were screened for deafness,and 18 families found related pathogenic mutations.A total of 9 families detected GJB2 mutations,and 6 of them detected GJB2 hybrid mutations(8.33%),GJB2 complex heterozygous mutations were detected in 3 families(4.17%);SLC26A4 gene mutations were detected in 5 families,3 of which were SLC26A4 919-2A>G single heterozygous mutations(4.17%),SLC26A4 919-2A>G simple mutation(2.78%)was detected in 2 families;mtDNA12S rRNA gene mutation was detected in 3 families,all of them were homozygous mutation(4.17%).another family was multi-gene composite mutation(1.39%),the mother was heterozygous mutation in GJB2,the father was GJB2,GJB3 and SLC26A4 polygenic multi-site heterozygous mutation,the child was detected as GJB3 and SLC26A4 heterozygous mutation.Conclusion By screening the high-risk families for deafness genes can help the fertility plan of the couples in high-risk families to achieve the"early screening,early diagnosis,early intervention"strategy.

关 键 词：耳聋 基因突变 基因芯片 遗传咨询 产前诊断 

分 类 号：R764[医药卫生—耳鼻咽喉科]