佛山地区孕妇线粒体耳聋基因突变分析  

Analysis of mutations of mitochondrial deafness genes in pregnant women in Foshan area

作　　者：宋春林[1] 邓璐莎[1] 陈淑芬[1] 周成[1] SONG Chun-lin;DENG Lu-sha;CHEN Shu-fen;ZHOU Cheng(Prenatal Diagnosis Center,Foshan Maternal and Child Health Hospital,Guangdong Province,Foshan 528000,China)

机构地区：[1]广东省佛山市妇幼保健院产前诊断中心,广东佛山528000

出　　处：《中国当代医药》2021年第30期23-26,共4页China Modern Medicine

基　　金：广东省佛山市自筹经费类科技计划(医学类科技攻关)项目(1920001000342)。

摘　　要：目的分析佛山地区孕妇线粒体耳聋基因突变谱。方法选取2020年1月至2021年4月在佛山市妇幼保健院产科门诊就诊的20299名孕妇作为研究对象,采用导流杂交术筛查常见耳聋易感基因,针对线粒体基因12S核糖体RNA和转运RNA特定片段设计引物并扩增,采用Sanger测序法检测线粒体突变位点。结果导流杂交法检测出四个基因11个突变位点共739例(3.64%),其中间隙连接β2蛋白:235delC杂合突变349例(47.22%)。Sanger测序检测出线粒体24个突变位点共130例,其中3种m.12192G>A、m.7443A>G、m.7445A>T为致病性突变。结论导流杂交术结合Sanger测序法用于孕妇耳聋基因筛查在耳聋防控中有重要的价值,线粒体基因测序丰富了佛山地区线粒体耳聋基因突变谱,可以提供更好的遗传咨询和生活指导。Objective To analyze the mitochondrial deafness gene mutation spectrum of pregnant women in Foshan area.Methods From January 2020 to April 2021,20299 pregnant women in the outpatient clinic of Foshan Maternity and Child Health Hospital were selected as the research objects.Flow-through hybridization was used to screen common deafness susceptibility genes,and Sanger sequencing method was used to detect mitochondrial DNA mutations.Results A total of 739 cases(3.64%)of common deafness gene mutations were detected,of which 349 cases(47.22%)were 235delC heterozygous mutations in Gap Junction β2 protein.Sanger sequencing method detected 130 cases of 24 mutation sites in mitochondria,of which m.12192G>A,m.7443A>G,m.7445A>T were pathogenic mutations.Conclusion The flow-through hybridization combined with Sanger sequencing method has important value in the prevention and control of deafness.Mitochondrial gene sequencing has enriched the mutation spectrum in Foshan area,which can provide better genetic counseling and life guidance.

关 键 词：孕妇 耳聋基因 线粒体基因 测序 导流杂交 突变 

分 类 号：R714[医药卫生—妇产科学]