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

目的对河南汉族64例非综合征性耳聋患者进行基因芯片诊断。方法对河南汉族64个非综合征性耳聋标本采静脉血提取DNA并进行PCR扩增,与晶芯9项遗传性耳聋基因检测试剂盒的芯片微阵列进行杂交,经过耳聋基因专用软件进行扫描并判读结果。结果用耳聋基因芯片对64个样本进行耳聋基因突变检测,GJB2、SLC26A4、线粒体12S rRNA、GJB3基因的9个基因位点检出阳性人数22例,占总筛检人数的34.4%,GJB2基因阳性突变总检出率为10.9%(7/64),SLC26A4基因阳性突变总检出率18.7%(12/64),GJB3阳性突变检出率3.1%(2/64),线粒体12S rRNA阳性突变检出率为1.6%(1/64),GJB2和SLC26A4基因突变占总突变的86.4%(19/22)。结论中国人常见的4个致聋基因突变在河南省人群中都有一定的检出率,GJB2基因235delC突变和SLC26A4基因的2168A>G突变是常见的突变方式。

Objective To explore the genetic mutations of nonsyndromie hearing impairment（NSHI）by geneehip in Han nationality of Hennan province. Methods DNA was extracted from venous blood in 64 patients with nonsyndromic heating impairment,and amplified by PCR. The product of PCR was hybridized with deafness geneehips. 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 125 rRNA. The mutation rates were 10.9%, 18.7%,3.1% and 1.6% for GJB2,SLC26A4,GJB3 and 12S rRNA genes,respectively. Conelnsion 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.