摘要
目的分析新生儿遗传性耳聋基因筛查的携带率及突变类型。方法选取2022年6月至2023年3月于苏州市第九人民医院建档的121例新生儿作为研究对象,进行遗传性耳聋基因筛查,统计遗传性耳聋基因突变类型。结果新生儿检出携带遗传性耳聋基因的比例为10.74%,其中GJB2基因的比例为4.96%,突变类型为野生型、纯合突变型、杂合突变型;SLC26A4基因的比例为3.31%,突变类型为野生型、纯合突变型、杂合突变型;GJB3基因的比例为1.65%,突变类型为纯合突变型、杂合突变型;线粒体12SrRNA的比例为1.11%,突变类型为纯合突变型。随访结果显示,携带遗传性耳聋基因的新生儿听力均正常。结论新生儿遗传性耳聋基因的携带率较高,突变位点主要位于GJB2、GJB3、SLC26A4、线粒体12S rRNA。对遗传性耳聋进行早筛查、早干预具有十分重要的意义。
Objective To analyze the carrying rate and mutation types of genetic screening for hereditary deafness in newborns.Methods A total of 121 newborns from June 2022 to March 2023 filed in Suzhou Ninth People’s Hospital were selected for genetic screening of hereditary deafness,and the types of hereditary deafness gene mutations were counted.Results The proportion of newborns found to carry the genetic deafness gene was 10.74%.The proportion of GJB2 gene was 4.96%,and the mutation types were wild type,homozygous mutant and heterozygous mutant.The proportion of SLC26A4 gene was 3.31%,and the mutation types were wild type,homozygous mutant and heterozygous mutant.The proportion of GJB3 gene was 1.65%,and the mutation types were homozygous mutant and heterozygous mutant.The proportion of mitochondrial 12SrRNA was 1.11%,and the mutation type was homozygous mutant.The follow-up results showed that the newborns carrying the genetic deafness gene had normal hearing.Conclusion The carrying rate of hereditary deafness genes in newborns is high,and the mutation sites are mainly GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA.Early screening and intervention of hereditary deafness is of great significance.
作者
蔡胜蓝
CAI Shenglan(Department of Neonatology,Suzhou Ninth People’s Hospital,Jiangsu Province,Suzhou 215200,China)
出处
《妇儿健康导刊》
2023年第22期74-76,共3页
JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE
关键词
新生儿
遗传性耳聋
基因筛查
携带率
突变类型
Newborn
Hereditary deafness
Genetic screening
Carrying rate
Mutation type
