【摘要】 目的 探讨基因芯片及酶切法在非综合征性耳聋患者检测中的意义,初步了解广州地区耳聋患者的相关基因突变。方法 选取广州市聋校学生188人作为研究对象,采用遗传性耳聋基因芯片进行4个常见基因（GJB2、GJB3、SLC26A4和线粒体DNA 12S rRNA）9个致聋突变位点的检测,并用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）对线粒体DNA A1555G突变、GJB2基因的235delC突变和SLC26A4基因的IVS7-2A>G突变位点进行检测。结果 188例耳聋患者中检出42人携带耳聋相关基因突变,检出阳性率为22.34%,其中GJB2的235delC纯合突变12例,杂合突变3例,299₃00delAT杂合突变1例,总检出率为8.51%;SLC26A4基因的IVS7-2A>G纯合突变7例,IVS7-2A>G、2168A>G复合杂合突变1例,IVS7-2A>G杂合突变17例,2168A>G杂合突变2例,总检出率为13.83%。基因芯片的检测结果 均与酶切法检测结果一致。结论 基因芯片与传统的酶切法相比具有操作简单快速、高通量、高准确性、低成本等特点,易于对人群进行大规模目快速准确的筛查。更多还原

【Abstract】 Objective To explore the significance of gene chips and restriction fragment length polymorphism（RFLP） in testing the patients with non-syndromic deafness and to investigate the common deaf-related gene mutations in Guangzhou.Methods The gene chip and RCR-RFLP were used to test 4 common deaf-related genes in 188 hearing-impaired students at schools for the deaf,including GJB2,GJB3,SLC26A4 and mitochondrial DNA 12S rRNA.Results 42 individuals carrying deafness-related gene mutations were detected in 188 cases and the positive rate was 22.34%.The 235delC homozygous mutation of GJB2 was found in 12 cases.The 235delC heterozygous mutation of GJB2 was found in 3 cases.The 299₃00delAT heterozygous mutation of GJB2 was found in one case.The positive rate of GJB2 mutations was 8.51%.SLC26A4 gene IVS7-2A>G homozygous mutation was found in 7 cases.IVS7-2A>G/2168A>G compound heterozygous mutation was found in one case while 17 cases were heterozygous of IVS7-2A>G and 2 cases were heterozygous of 2168A>G.The positive rate of SLC26A4 mutations was 13.83%.The gene chip test results were consistent with the results of enzyme assay.Conclusion The gene chips have advantages over RCR-RFLP because of its rapidness,high-throughput,high accuracy,low cost,simple operation and applicable for large-scale detection of deafness-related gene mutations.更多还原