榆次地区非综合征性耳聋患者GJB2基因的检测分析

Detection and analysis of GJB2 gene in patients with non-syndromic deafness in Yuci area

目的通过对榆次地区100例非综合征性耳聋患者GJB2基因突变位点的筛查,了解该地区耳聋基因的突变特点,为耳聋的早期诊断提供依据。方法收集榆次地区100例非综合征性耳聋患者的外周血标本,提取全血基因组DNA后,用聚合酶链反应(PCR)对目的片段进行扩增并测序,结果在Gen Bank上比对分析。结果 100例耳聋患者中,检测到90例患者发生基因突变,其中有3个位点未见报道:c.54C>A(2.5%)、c.319A>G(0.5%)、c.512-513ins AACG(0.5%);4个位点突变发生率较高:c.79G>A(26.50%)、c.235del C(12.00%)、c.341A>G(20.50%)、c.765T>C(13.50%);另外还检测出8个突变发生率较低的位点:c.109G>A(1.5%)、c.176-191del16(1.00%)、c.223C>T(1.00%)、c.253T>C(0.50%)、c.299-300del AT(3.50%)、c.328del G(0.50%)、c.368C>A(0.50%)、c.608T>C(2.00%)。结论通过对榆次地区耳聋患者GJB2基因的检测分析,可以明确耳聋患者的病因,了解该地区的耳聋基因突变情况,为今后的耳聋患者的病因学诊断提供参考。

Objective： Through screening 100 cases of GJB2 gene mutation of non-syndromic deafness in Yuci region, the characteristics of deafness gene mutations in this region are understood, and the basis for early diagnosis of deafness is provided. Methods： 100 cases of blood samples of non-syndromic deafness patients in Yuci area were collected, genomic DNA is extracted in blood, the target fragment was amplified and sequenced using the polymerase chain reaction （PCR） , the results were aligned and analyzed in GenBank. Results： 90 patients were detected mutations in 100 cases of deafness patients, in which three loci are unreported： c.54C〉A （2.5%） , c.319A〉G （0.5%） , c.512-513insAACG （0.5%） ; the mutation rate of four sites is higher： c.79G〉A （26.50%） , c.235delC （12%） , c.341A〉G （20.50%） , c.765T〉C （13.50%） ; besides it is also detected that the mutation rate of eight loci is lower： c.109G〉A （1.5%） , c.176-191de116 （1%） , c.223C〉T （1%） , c.253T〉C （0.50%） , c.299-300delAT （3.50%） , c.328delG （0.50%） , c.368C〉A （0.50%） , c.608T〉C （2%） . Conclusion： Through the analysis of GJB2 genetic detection of deafness patients from Yuci area, the cause of deafness patients was made clear, the gene mutations of deafness in that area were understood, and the reference for the diagnosis of the deafness patients was provided.