摘要
目的探讨听力正常育龄期妇女进行中国人群常见非综合征性耳聋基因检测的价值。方法选择2014年7月-2017年6月至沈阳市妇婴医院就诊的孕早期孕妇6278例(24-45岁),抽取静脉血2-3ml并提取基因组DNA。应用基因芯片技术对中国人群常见的4个耳聋基因GJB2、GJB3、SLC26A4及线粒体12S rRNA基因9个位点进行筛查;携带耳聋基因突变孕妇的配偶(23-47岁)进行相应基因测序检测;夫妻双方为同一等位基因突变携带者时,建议孕妇进行羊水穿刺行胎儿基因型分析。结果 6278例孕早期孕妇检出本人为耳聋基因突变携带者294例,突变携带率4.68%,其中GJB2基因154例(2.46%,154/6278)、SLC26A4基因109例(1.75%,109/6278)、GJB3基因18例(0.29%,18/6278)和线粒体12S rRNA基因12例(0.18%,12/6278);其中2例患者为GJB2基因和SLC26A4基因的双杂合突变携带者;携带耳聋基因突变孕妇配偶中进行检测187例,检出突变携带者20例,夫妻双方基因型冲突家庭11个,知情选择后进行产前诊断者5个家庭,胎儿为100%耳聋风险者2个,携带1个基因突变者2例,未携带突变者1例。结论 GJB2的235delC和SLC26A4的c.919-2 A>G突变率位列本地区育龄期妇女非综合征耳聋基因突变的前两位,在育龄妇女中进行常见耳聋基因筛查、并对基因突变携带者配偶进行遗传性耳聋基因检测、进而评估胎儿耳聋基因携带风险非常必要。
Objective To study the value of testing genes of common non-syndromic hearing loss(NSHL),a common hearing disorder among Chinese,in pregnant women.Methods In this study,6278 normal?hearing pregnant women(aged 24 to 45 years)were included,who underwent routine prenatal examination at the Shenyang Women’s and Children’s Hospital between July 2014 and June 2017,and were screened for mutants of 4 deafness genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)frequently found in the Chinese population using microarray chips.One hundred and eighty seven normal?hearing men(spouses of women found to bear deafness gene mutations,aged 23 to 47 years)were also screened.Amniocentesis was recommended for prenatal diagnosis when couples carried mutants on the same gene.Results Of the 6278 normal?hearing pregnant women,294(4.68%)were found to have deafness gene mutations,including 154 involving the GJB2 gene(2.46%),18 involving the GJB3 gene(0.29%),109 involving the SLC26A4 gene(1.75%)and 13 involving the mitochondrial 12S rRNA(0.18%).Two women were heterozygous mutation carriers of both GJB2 and SLC26A4 genes.Among the 187 normal hearing spouses,20 were found to be also mutation carriers,and 11 couples carried mutants on the same gene,of whom 5 eleted amniocentesis prenatal diagnosis which revealed 100%hearing loss risk in 2 fetuses,single hearing loss gene mutant in 2 fetuses and no mutation in 1 fetus.Conclusion GJB2 and SLC26A4 mutations are the most frequently seen mutations among pregnant women in the Shenyang region.Screening for these mutation sites and prenatal genetic diagnosis in couples carrying mutants on the same gene are very important.
作者
赵艳辉
张萌
韩瑞
樊婷婷
庞泓
ZHAO Yanhui;ZHANG Meng;HAN Rui;FAN Tingting;PANG Hong(Department of Genetics,Shenyang Women and Children’s Hospital,Shenyang,Liaoning 110001,China)
出处
《中华耳科学杂志》
CSCD
北大核心
2018年第6期876-881,共6页
Chinese Journal of Otology
基金
沈阳市科技计划(F16-206-9-32)
沈阳市科学技术计划项目(17-230-9-87)
沈阳市遗传病诊断临床医学研究中心(18-009-4-11)~~
关键词
遗传性耳聋
基因诊断
遗传咨询
产前诊断
Hereditary hearing loss
Genetic diagnosis
Genetic counseling
Prenataldiagnosis
