山西医科大学学报2012，Vol.43Issue(9)：649-651,3.DOI:10.3969/J.ISSN.1007-6611.2012.09.003
河南汉族64例非综合征性耳聋的基因芯片诊断
Genetic analysis of 64 patients with nonsyndromic hearing impairment ( NSHI ) by genechip in Han nationality of Henan province
摘要
Abstract
Objective To explore the genetic mutations of nonsyndromic hearing impairment(NSHI)by genechip in Han nationality of Hennan province. Methods DNA was extracted from venous blood in 64 patients with nonsyndromic hearing impairment, and amplified by PCR. The product of PCR was hybridized with deafness genechips. The results were scanned and analyzed using professional software. Results A total of 22 patients(34.4%)were found gene mutation in 9 sites of 4 genes including GJB2,GJB3,SLC26A4 and 12S rRNA. The mutation rates were 10.9%, 18.7%,3. 1% and 1.6% for GJB2,SLC26A4,GJB3 and 12S rRNA genes,respectively. Conclusion The mutation of the four common deafness genes are all found in Henan population. The mutations of 235delC in GJB2 gene and 2168A > G in SLC26A4 gene are the most common.关键词
非综合征性耳聋/基因突变/基因芯片Key words
nonsyndromic hearing impairment/gene mutation/genechip分类
医药卫生引用本文复制引用
赵慧茹,廖世秀,丁雪冰,王莉,杨科..河南汉族64例非综合征性耳聋的基因芯片诊断[J].山西医科大学学报,2012,43(9):649-651,3.基金项目
河南省2010年医学科技攻关基金资助项目(201003114) （201003114）
