浙江医学2017，Vol.39Issue(12)：957-960,4.DOI:10.12056/j.issn.1006-2785.2017.39.12.2017-595
宁波地区非综合征型耳聋患儿耳聋基因热点突变筛查分析
Screening of hot-spot deafness gene mutations among children with non-syndromic hearing loss in Ningbo region
摘要
Abstract
Objective To screen the hot-spot deafness gene mutation in children with non-syndromic hearing loss (NSHL) in Ningbo region.Methods One hundred and sixty eight NSHL children were enrolled from Ningbo Special Education Center for the study.The screening of 29 hot-spot mutations of 4 deafness genes was performed by multiple ARMS capillary electrophoresis using AGCU genetic deafness gene detection kit.Results Among 168 children,the deafness gene mutations were detected in 58 cases (34.52％),including 43 cases with single hotspot mutation in GJB2 gene,9 with hotspot mutations in single SLC26A4 gene,and 3 with GJB2 gene and SLC26A4 gene mutation,and 3 with 12S rRNA gene mutation.The total hot spot mutation rate of GJB2 gene was 27.38％,that of SLC26A4 gene was 7.14％,and that of 12S rRNA gene was 1.79％.The mutation rate of GJB2 235delC was the highest (23.21％),followed by GJB2 299 del AT (5.36％) in all hotspots.Conclusion GJB2 and SLC26A4 are the main genes associated with non-syndromic deafness patients in Ningbo area,and GJB2 235delC is the most common mutation site.关键词
遗传性耳聋/非综合征型耳聋/热点突变/基因诊断Key words
Hereditary hearing loss/Non-syndromic hearing loss/Hot-spot mutation/Genetic diagnosis引用本文复制引用
高薇薇,卢文翔,张雷,白云飞..宁波地区非综合征型耳聋患儿耳聋基因热点突变筛查分析[J].浙江医学,2017,39(12):957-960,4.基金项目
浙江省教育厅科研项目(Y201534685) （Y201534685）
