内蒙古自治区3500例新生儿遗传性耳聋基因位点筛查分析

Analysis of genetic deafness loci in 3500 newborns in Inner Mongolia autonomous region

目的分析内蒙古自治区新生儿耳聋基因热点突变位点突变情况,为遗传性耳聋患者临床治疗提供有力数据。方法利用联合探针锚定聚合测序法检测遗传性耳聋基因4个基因20个位点,对2018年1月1日至6月30日在内蒙古自治区妇幼保健院正常分娩的3500例新生儿行遗传性耳聋基因筛查,探讨内蒙古自治区遗传性耳聋基因突变位点分布情况。结果3500例新生儿,耳聋基因筛查结果提示突变总数193例,突变率为5.51%;杂合突变178例,杂合突变率为5.09%;纯合突变15例为线粒体均质突变,突变率为0.43%。其中GJB2基因突变82例,突变率为2.34%;SLC26A4基因突变78例,突变率为2.23%;GJB3基因突变17例,突变率为0.49%;线粒体12SrRNA基因突变16例,突变率为0.46%。结论内蒙古自治区遗传性耳聋基因突变位点携带率较高,提示全面开展内蒙古自治区新生儿耳聋基因筛查的重要性,可尽早明确耳聋婴幼儿病因,提前干预,以增强耳聋患儿的生存能力,提高耳聋患儿家庭生活质量。

Objective To analyze the hot spot mutation site of deafness gene in newborns in Inner Mongolia autonomous region,and to provide powerful data for clinical treatment of hereditary deafness.Methods In a total of 3500 newborns accepted deafness gene screening were detected 4 genes and 20 loci of genotypic deafness by combination probe anchored polymeric sequencing from January 1 to June 30 in 2018 in Inner Mongolia Maternal and Child Care Hospital,and the distribution of genetic mutations in deafness in Inner Mongolia autonomous region was investigated.Results The results of deafness gene screening indicated that there were a total of 193 mutations in 3500 newborns,the mutation rate was 5.51%,heterozygous mutation in 178 cases,the mutation rate was 5.09%.There were 15 cases of pure mutation,the mutation rate was 0.43%.There were 82 genetic mutations on GJB2,the mutation rate was 2.34%.There were 78 genetic mutations on SLC26A4,the mutation rate was 2.23%.There were 17 genetic mutations on GJB3,the mutation rate was 0.49%.There were 16 genetic mutations on mitochordria 12SrRNA,the mutation rate was 0.46%.Conclusion Inner Mongolia autonomous region has a higher carrying rate of genetic mutation sites for deafness,which indicates that Inner Mongolia autonomous region newborn deafness gene screening is comprehensive development of importance for identifying the cause of deafness as early as possible,so as to enhance the survival ability of deaf children,and improve the quality of family life of deaf children.