安徽医科大学学报2017，Vol.52Issue(12)：1849-1853,5.DOI:10.19405/j.cnki.issn1000-1492.2017.12.022
安徽汉族遗传性耳聋患儿142例基因芯片的筛查分析研究
Analysis and study of genetic screening in 142 children with hereditary deafness in Anhui
摘要
Abstract
Objective To investigate the distribution of common deafness genes in 142 cases of hereditary hearing loss in Anhui Han population by gene chip technique.Methods Children's blood spot were collected and the DNA was extracted,then 9 mutations in GJB2,SLC26A4,GJB3 and mtDNA 12s rRNA deafness genes in the children were detected by using genetic deafness gene detection kit (microarray chip method).Results Of the 142 children with hereditary deafness,68 children with deafness-related gene mutations were detected (47.89％).The mutation rates of GJB2,GJB3,SLC26A4,mtDNA 12S rRNA were 28.17％ (40/142),0.70％ (1/142),18.31％ (26/142),5.63％ (8/142),respectively.Conclusion GJB2,SLC26A4,mtDNA 12S rRNA are the main genes leading to deafness in children with hereditary deafness in Anhui Han nationality,The GJB2 gene 235delC and SLC26A4 gene IVS7-2A ＞ G and mtDNA 12s rRNA gene 1555A ＞ G is the most common mutations of deafness gene in this study group.关键词
耳聋/基因芯片/GJB2/GJB3/SLC26A4/mtDNA 12S rRNAKey words
deafness/gene chip/GJB2/GJB3/SLC26A4/12S rRNA分类
医药卫生引用本文复制引用
徐彬,余元勋,李建平,王迎新,刘萍,张立,方佩斐..安徽汉族遗传性耳聋患儿142例基因芯片的筛查分析研究[J].安徽医科大学学报,2017,52(12):1849-1853,5.基金项目
安徽高校省级自然科学研究项目(编号:KJ2014A128) （编号:KJ2014A128）
