淄博市47 332例新生儿遗传性耳聋基因筛查及突变位点分析

Genetic Screening and Mutation Site Analysis of 47 332 Newborns with Hereditary Deafness in Zibo City

目的分析淄博市新生儿遗传性耳聋基因筛查的携带率及突变类型、突变频率等情况,为出生缺陷防治工作提供指导依据。方法应用基因芯片与Sanger测序相结合的方法,对2017年8月至2019年11月在淄博市助产机构出生的47332名新生儿,进行4个常见耳聋基因GJB2、GJB3、SLC26A4、mtDNA 12SrRNA的15个位点的芯片检测,后对检测阳性病例相应位点进行Sanger测序予以确认。结果47332例新生儿中检出突变2411例,突变率5.09%(2411/47332),其中GJB2基因突变频率为2.63%;GJB3基因突变频率为0.42%;SLC26A4基因突变频率为1.88%;mtDNA 12SrRNA突变频率为0.27%;SLC26A4基因中突变频率较低的位点(1174A>T、1226G>A、1229C>T、1975G>C、2027T>A、IVS15+5G>A)总突变频率为0.40%。结论常见耳聋基因在淄博市新生儿中有较高的突变率,其中以GJB2、SLC26A4为主,非热点突变突变频率也较高,可进一步优化淄博市耳聋基因筛查方案。

Objective:To analyze the carrying rate,mutation type,and mutation frequency of genetic screening for genetic deafness in newborns in Zibo City,and provide guidance for prevention and treatment of birth defects.Methods:The combination of gene chip and Sanger sequencing method was used to carry out GJB2,GJB3,SLC26A4,mtDNA 12SrRNA 4 common deafness genes of 47332 newborns born in Zibo midwifery institution from August 2017 to November 2019 Chip detection of each locus,and then Sanger sequencing was performed on the corresponding loci of the positive cases to confirm.Results:2411 mutations were detected in 47332 newborns,with a mutation rate of 5.09%(2411/47332),of which GJB2 gene mutation frequency was 2.63%;GJB3 gene mutation frequency was 0.42%;SLC26A4 gene mutation frequency was 1.88%;mtDNA 12SrRNAgene mutation frequency was 0.27%;the total mutation frequency of the SLC26A4 gene with lower mutation frequency(1174A>T,1226G>A,1229C>T,1975G>C,2027T>A,IVS15+5G>A)was 0.40%.Conclusion:Common deafness genes have a higher mutation rate in newborns in Zibo City,among which GJB2 and SLC26A4 are the main ones,and the frequency of non-hotspot mutations is also higher,which can further optimize the screening program for deafness genes in Zibo City.