重庆医学2012，Vol.41Issue(12)：1186-1188,3.DOI:10.3969/j.issn.1671-8348.2012.12.016
广州地区非综合征性耳聋患者耳聋相关基因突变分析
Analysis of deafness-related gene mutations in nonsyndromic hearing loss patients in Guangzhou
贾蓓 1李琦 2宋兰林 1刘思平 1钟梅1
作者信息
- 1. 南方医科大学南方医院妇产科产前诊断与遗传病诊断技术中心
- 2. 南方医科大学南方医院耳鼻喉科,广州,510515
- 折叠
摘要
Abstract
To identify the deafness-related gene mutations in patients with nonsydromic hearing loss (NSHL) in Guangzhou, and to explore the molecular pathogenic mechanism. Methods Genomic DNA samples of 52 deafness patients in Guangzhou were extracted from peripheral blood. Nine mutations of four genes (GJB2 , SLC26A4 , mitochondrial 12S rRNA,and GJB3) were detected by gene chip technique. Results Among 52 patients with nonsyndromic hearing loss, 18 cases were found out to carry at least one pathogenic gene mutation. The positive detection rate was 34. 6%. In these patients, 9 cases have GJB2 mutations (235delC homozygous mutation in 6 cases, 235delC heterozygous mutation in 2 cases, and 299delAT homozygous mutation in 1 case) ,5 cases have SLC26A4 gene mutations (IVS7-2A>G homozygous mutation in 4 cases and IVS7-2A>G heterozygous mutation in 1 case) ,and 4 cases have mitochondrial 12S rRNA A1555G mutations. Conclusion Incidence of GJB2 and SLC26A4 gene mutations in NSHL population in Guangzhou is below the average of the overall Chinese deaf population. The incidence of mtDNA A1555G is higher than the average of the overall Chinese deaf population.关键词
非综合征性耳聋/基因/突变/芯片Key words
nonsyndromic hearing loss/gene/mutation/chip引用本文复制引用
贾蓓,李琦,宋兰林,刘思平,钟梅..广州地区非综合征性耳聋患者耳聋相关基因突变分析[J].重庆医学,2012,41(12):1186-1188,3.
