宝鸡地区非综合征性耳聋患者基因检测分析

Genetic testing analysis in patients with non-syndromic deafness analysis in Baoji city

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 non-syndromic deafness gene mutations and investigate the distribution characteristics of mutations in Baoji city. Methods：6 children failed the newborn hearing screening in Baoji maternal and child health hospital,1 couple of parents and 13 hearing impaired students from special vocational technical school were recruited in this study. Realtime PCR were performed to detect 10 mutation sites in three genes,including GJB2（176del16bp,299-300 delAT,235 delC,512 insAACG）,SLC26A4（PDS）（1174A〉 T,1229 C 〉T,2168A 〉G,1VS7-2A 〉G）,mtDNA12SrRNA（1494C T,1555A G）. Results：In 21 cases of subjects,mutation detection rate of GLB2 gene was 28.57%（6/21）[235del C（n=3）and 299-300 del TA（n=3）],SLC26A4 gene was4.76%（1/21）（1 homozygous mutation in IVS7-2A〉 C）;no case were detected with mtDNA12SrRNA. Conclusion：By analyzing the disease-causing genes in deafness patients in Baoji city,we can understand the cause of deafness,which could provide the evidence for the treatment and deafness gene screening in the future.