江苏省部分地区孕前人群耳聋基因微阵列芯片筛查及遗传咨询  

Pre-pregnancy Population Screening of Deafness Gene Micro-array and Genetic Consultation in Jiangsu

作　　者：黄丽丽 吴玉璘[1] 林宁[1] 石慧[1] 姜志欣[1] 王丽娟[1] 陈伟[1] 封婕[1] 査树伟 许豪勤 Huang Lili;Wu Yulin;Lin Ning;Shi Hui;Jiang Zhixin;Wang Lijuan;Chen Wei;Feng Jie;Zha Shuwei;Xu Haoqin(Jiangsu Institute of Planned Parenthood Research,Nanjing,210036,China)

机构地区：[1]江苏省计划生育科学技术研究所,南京210036

出　　处：《听力学及言语疾病杂志》2018年第6期590-595,共6页Journal of Audiology and Speech Pathology

基　　金：江苏省科技厅创新能力建设计划(BM2015020);江苏省科技厅临床医学科技专项(BL2014098);重庆市出生缺陷与生殖健康重点实验室计划项目(2016cstc-jbky-01718)

摘　　要：目的探讨对孕前人群进行耳聋基因筛查及耳聋相关遗传咨询的意义。方法抽取江苏省6个地区的孕前耳聋基因筛查人群共1 843例,将其分成孕前耳聋高危组(1 203例)和孕前非耳聋高危组(640例),使用微阵列耳聋基因芯片,分别对两组对象进行GJB2、GJB3、SLC26A4、线粒体12SrRNA 4个常见耳聋基因中9个位点(GJB2基因35del G、176del 16、235del C、299del AT,GJB3基因538C>T,SLC26A4基因2168A>G、IVS7-2A>G和线粒体12SrRNA基因1494C>T、1555A>G)的检测,应用遗传性耳聋基因芯片报告咨询表和现场咨询相结合的方式,向受检者提供筛查结果的遗传咨询。结果 1 203例孕前耳聋高危组中,GJB2基因突变检出率为24.02%(289/1 203),GJB3为0.08%(1/1 203),SLC26A4为13.22%(159/1 203),线粒体12SrRNA为11.89%(143/1 203)。640例孕前非耳聋高危组中,GJB2基因突变率为3.44%(22/640),GJB3为0.31%(2/640),SLC26A4为1.25%(8/640),线粒体12SrRNA为0.31%(2/640)。发放咨询表1 843人份,回收949人份,共咨询和解答问题728个,其中基因遗传占57.69%(420/728),生育风险占30.49%(222/728),产前诊断占3.44%(25/728),预防治疗占8.38%(61/728)。5个典型案例中,例1家庭仲某某是GJB2 235del C杂合突变,建议其婚配对象进行相应位点检测以预防生育耳聋患者;例2家庭耳聋夫妇丈夫为SLC26A4IVS7-2A>G杂合突变型,妻子为线粒体12SrRNA 1555A>G均质突变型,告知其后代绝对禁止使用氨基糖苷类抗生素,建议丈夫进行SLC全基因测序,妻子进行相应位点检测;例3家庭妻子为野生型,耳聋患者丈夫为GJB2 235del G杂合突变和线粒体12SrRNA 1555A>G均质突变,建议丈夫行GJB2基因的全序列测序分析;例4家庭丈夫为野生型,妻子为SLC26A4IVS7-2A>G杂合突变型,建议妻子进行影像学颞骨CT检查,丈夫进行相应位点的全序列检测;例5家庭父亲为GJB2 299del AT杂合突变型,母亲为GJB2 176del 16杂合突变型,预测后代出现耳聋的风险为25%,建议母亲再生育时进�Objective To investigate the significance of genetic screening and deafness-related genetic counseling in pre-pregnancy population in Jiangsu province.Methods A total of 1 843 pre-pregnancy deafness genetic screening samples were selected from Jiangsu province and divided into pre-pregnancy deafness high-risk group(1 203 cases)and pre-pregnancy deafness non-high-risk group(640 cases).There were 599 males(mean age 25.5±13.5)and 604 females(mean age 26.7±12.5 years)in the high-risk group.And in the non-high-risk group 288 males(mean age 29.1±5.6)and 352 females(mean age 27.4±4.5).We used the gene micro-array to test nine mutations in GJB2,GJB3,SLC26A4,and mitochondrial 12SrRNA.Genetic counseling for screening results was provided to the pre-pregnancy population by means of a combination of gene chip reporting questionnaire form and on-site counseling.Results In 1 203 cases of pre-pregnancy deafness high-risk groups,the mutation rate of deafness gene in GJB2 was 24.02%,0.08%in GJB3,13.22%in SLC26A4,and 11.8%in mitochondrial 12SrRNA.In comparison,640 cases of non-high-risk group,the mutation rate of deafness gene in GJB2 was 3.44%.0.31%in GJB3,1.25%in SLC26A4,and 0.31%in mitochondrial 12SrRNA.A total of 1 843 cases of microarray deafness gene chip test report and hereditary deafness gene chip report consultation form were issued,with 949 cases recovered intotal.A total of 728 questions were consulted and answered through statistics,in which genetic inheritance accounted for 57.69%,reproductive risk accounted for 30.49%,prenatal diagnosis accounted for 3.44%,prevention and treatment accounted for 8.38%.In 5 typical cases,the first family had GJB2 235delC heterozygous mutation,which was suggested that the marriage partner's corresponding locus test can effectively prevent the incidence of deafness.In the second family deafness couple,the husband was SLC26A4 IVS7-2A>G heterozygous mutant,while wife was mitochondrial 12SrRNA 1555A>G homozygous mutant.This couple was advised that their offspring of the absolute pro

关 键 词：遗传性聋 微阵列耳聋基因芯片 遗传咨询 孕前人群 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]