基因芯片在耳聋基因检测中的应用

目的:通过采用基因芯片的方法在耳聋人群中进行突变基因检测,探讨该方法在耳聋预防和阻断中的应用价值。方法:采用基因芯片方法进行突变位点的检测。采集29例沈阳市聋哑人的外周血,提取基因组DNA进行PCR扩增、杂交、扫描检测,其可以同时检测4种常见的耳聋相关基因中的9个热点突变,包括GJB2(35delG,176del16,235delC及299delAT)、GJB3(538C>T)、SLC26A4(IVS7-2A>G、2168A>G)和线粒体DNA12SrRNA(1494C>T,1555A>G)。结果:在29例耳聋患者中,基因芯片方法共检测出13例携带致聋突变(44.83%)。其中,GJB2基因突变6例(20.69%),包括235delC位点杂合突变型3例,235delC位点纯合突变型1例,299del AT位点杂合突变型2例,235delC和176del 16位点复合杂合突变型1例;SLC26A4基因突变10例(34.48%),包括IVS7-2A>G位点杂合突变型7例,IVS7-2A>G位点纯合突变型2例,2168 A>G位点杂合突变型1例,其中1例为GJB2基因235delC位点,299del AT位点和SLC26A4基因2168 A>G位点复合杂合突变。结论:基因芯片作为一种基因检测的方法,在预防"聋-聋"垂直传递,降低聋儿的出生率方面起到重要的作用。

Application of gene chip for gene detection of deafness

Objective:To explore the application value of gene chips for prevention and block of deafness by conducting detection of mutant genes among the population with deafness.Methods:Gene chips were used for detection of mutant loci.The peripheral blood samples of 29 deaf cases in Shenyang city were collected,and then genomic DNA was Abstracted for PCR amplification,hybridization,and detection;nine mutant loci in four common deafness-related genes were detected as te same time,including GJB2(35delG,176del16,235delC,and 299delAT),GJB3(538C>T),SLC26A4(IVS7-2A>G,2168A>G),and mitochondrial DNA12SrRNA(1494C>T,1555A>G).Results:Among 29 patients with deafness,13 patients were found with gene mutations(44.83%).Among 13 patients with gene mutations,6 patients were found with GJB2 gene mutations(20.69%),including 23 patients with heterozygous mutation in 35delC locus,1 patient with homozygous mutation in 235delC locus,2 patients with heterozygous mutation in 299del AT locus,and 1 patient with compound heterozygous mutation in 235delC locus and 176del 16 locus;10 patients were found with SLC26A4 gene mutation(34.48%),including 7 patients with heterozygous mutation in IVS7-2A>G locus,2 patients with homozygous mutation in IVS7-2A>G locus,and 1 patient with heterozygous mutation in 2168 A>G locus;one patient were found with compound heterozygous mutation in GJB2 gene 235delC locus,299del AT locus,and SLC26A4 gene 2168 A>G locus.Conclusion:As a method of gene detection,gene chips play important roles for preventing "deaf-deaf" vertical transmission and reducing the birth rate of neonates with deafness.