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目的分析宝鸡地区非综合征性耳聋基因突变,初步了解本地区耳聋患者耳聋基因的突变特征。方法收集本地区新生儿听力筛查未通过患者6例,1例耳聋患者双亲,及13例特殊职业技校听力障碍学生,采用荧光定量PCR法,检测三个耳聋基因的10个突变位点GJB2(176del16bp,299-300delAT,235delC,512insAACG)、SLC26A4(PDS)(1174A>T,1229C>T,2168A>G,1VS7-2A>G)、mtDNA12SrRNA(1494C>T、1555A>G)。结果 21例受检者中GLB2基因突变位点检出率为28.57%(6/21);235delC与299-300delAT突变各检出3例,SLC26A4基因检出率为4.76%(1/21),为IVS7-2A>C纯合突变;未检出线粒体12SrRNA基因突变。结论通过对宝鸡地区耳聋患者致病基因的检测分析,可以明确耳聋患者的病因,了解本地区的耳聋基因突变情况,为今后的耳聋患者及本地区耳聋基因筛查提供参考。
Objective To analyze the gene mutation of non-syndromic deafness in Baoji region and to understand the mutation characteristics of deafness gene in patients with deafness in this area. Methods Six neonates who did not pass the neonatal hearing screening in our region, 12 parents with deafness and 13 students with special vocational and technical hearing impairment were enrolled in this study. Fluorescent quantitative PCR was used to detect 10 mutations in three deafness genes, GJB2 176del16bp, 299-300delAT, 235delC, 512insAACG), SLC26A4 (PDS) (1174A> T, 1229C> T, 2168A> G, 1VS7-2A> G), mtDNA12SrRNA (1494C> T, 1555A> G). Results The positive rate of GLB2 gene mutation was 28.57% (6/21) in 21 cases. Three cases of 235delC and 299-300delAT mutations were detected, the positive rate of SLC26A4 gene was 4.76% (1/21) IVS7-2A> C homozygous mutation; mitochondrial 12SrRNA gene mutation was not detected. Conclusion The detection and analysis of pathogenic genes in patients with deafness in Baoji area can identify the etiopathogenisis of deafness patients and understand the mutation of deafness gene in this area and provide reference for future deafness patients and deafness gene screening in the region.