摘要
目的分析耳聋易感基因突变位点在徐州地区孕妇中的主要突变类型及携带率,为孕妇进行遗传性耳聋易感基因的筛查提供参考依据。方法回顾性分析2017年9月—2021年11月在徐州市中心医院就诊的患者,选取徐州地区3865例孕妇耳聋易感基因筛查资料,其中包括79例听力障碍的孕妇及15例来自携带突变基因家庭的孕妇。用微阵列芯片法检测4项耳聋易感基因(GJB2、GJB3、SLC26A4、线粒体12SrRNA)的9个突变位点。结果3865例孕妇耳聋易感基因突变总携带率是6.44%(249/3865),其中GJB2为3.60%(139/3865)、GJB3为0.28%(11/3865)、SLC26A4为2.41%(93/3865)、线粒体12SrRNA为0.16%(6/3865),无听力障碍的孕妇耳聋易感基因突变总携带率5.97%(226/3786),听力障碍的孕妇耳聋易感基因突变总携带率29.11%(23/79),差异有统计学意义(χ^(2)=68.770,P<0.05)。18例复合杂合突变的孕妇共检出10种组合,其中235delC/IVS7-2A>G有6例,235delC/299delAT有3例,其余的组合病例数少见(35delG/IVS7-2A>G 2例、299delAT/IVS7-2A>G 1例、235delC/2168A>G 1例、538C>T/2168A>G 1例、35delG/2168A>G/IVS7-2A>G 1例、235delC/299delAT/IVS7-2A>G 1例、2168A>G/IVS7-2A>G 1例、235delC/176del161例)。来自携带突变基因的15个家庭中,11个家庭中妻子携带耳聋易感基因突变,丈夫均为野生型和1个家庭夫妻都携带耳聋易感基因突变,婴幼儿为野生型或是杂合突变型听力均通过;3个家庭夫妻均有耳聋易感基因的突变,其中婴幼儿为纯合突变和复合杂合突变的听力未通过。结论3865例孕妇携带耳聋易感基因以GJB2235delC突变位点为主,SLC26A4 IVS7-2A>G突变位点次之。
Objective To analyze the main mutation types and carriage rates of deafness susceptibility gene mutations in pregnant women in Xuzhou Area,aiming to provide a reference for the screening of hereditary deafness susceptibility genes in pregnant women.Methods A retrospective analysis was performed for the screening data of 3865 pregnant women with deafness susceptibility genes in Xuzhou Area from September 2017 to November 2021,including 79 pregnant women with hearing impairment and 15 pregnant women from families with mutant genes.Nine mutation sites of four deafness sus-ceptibility genes(GJB2,GJB3,SLC26A4,and mitochondrial 12SrRNA)were detected by microarray array.Results The total carrier rate of deafness susceptibility gene mutations in 3865 pregnant women was 6.44%(249/3865),with GJB2 being 3.60%(139/3865),GJB3 being 0.28%(11/3865),SLC26A4 being 2.41%(93/3865),and mitochondrial 12SrRNA being 0.16%(6/3865).The total carrier rate of deafness susceptibility gene mutation in pregnant women without hearing impairment was 5.97%(226/3786),and the total carrier rate of deafness susceptibility gene mutation in pregnant women with hearing impairment was 29.11%(23/79).The difference was statistically significant(χ^(2)=68.770,P<0.05).A total of 10 combinations were detected in 18 pregnant women with compound heterozygous mutations,including 235delC/IVS7-2A>G 6 cases,235delC/299delAT 3 cases,and the number of remaining combined cases were rare(35delG/IVS7-2A>G 2 cases,299delAT/IVS7-2A>G 1 case,235delC/2168A>G 1 case,538C>T/2168A>G 1 case,35delG/2168A>G/IVS7-2A>G 1 case,235delC/299delAT/IVS7-2A>G 1 case,2168A>G/IVS7-2A>G 1 case,235delC/176del161 case.)Among the 15 families with the mutated gene,11 families had wives with deafness susceptibility gene mutations,husbands were wild-type,1 family had both husbands and wives with deafness susceptibility gene mutations,and infants and young children wild-type or heterozygous mutant hearing were passed;Couples in three families had mutations in susceptibility genes for deafness,among which infants and young children had homozygous mutations and compound heterozygous mutations.Conclusion Among the 3865 pregnant women carrying hearing susceptibility genes,GJB2235delC mutation site is the main susceptibility gene for deafness,followed by SLC26A4 IVS7-2A>G mutation site.
作者
谭昆
刘岳鹏
李全双
李睿
翟敬芳
TAN Kun;LIU Yuepeng;LI Quanshuang;LI Rui;ZHAI Jingfang(Xuzhou Central Hospital,Xuzhou 221006,Jiangsu,China;Xuzhou Municipal Institute of Medical Sciences,Xuzhou 221006,Jiangsu,China)
出处
《中国校医》
2024年第3期226-229,共4页
Chinese Journal of School Doctor
基金
吴阶平医学基金会临床科研专项资助基金(320.6750.19089-18)
关键词
遗传性耳聋
基因突变
复合杂合突变
微阵列芯片
Hereditary deafness
Gene mutation
Compound heterozygous mutation
Microarray chip
