摘要
目的分析1001例宁夏地区婚检孕前门诊就诊女性耳聋基因筛查结果。方法选取2019年1月—2021年12月于银川市妇幼保健院婚检孕前门诊就诊的1001例女性作为研究对象,在知情同意的原则下,应用耳聋基因微阵列芯片法对4个常见耳聋基因的15个热点突变位点进行筛查,对携带耳聋基因突变位点的女性配偶进行同一基因全长测序,并对耳聋基因高风险胎儿进行产前诊断。结果1001例耳聋基因检测女性中,62例检测到耳聋基因突变,突变携带率为6.19%,其中GJB2、SLC26A4、GJB3、线粒体12S rRNA、多杂合基因突变携带率分别为2.60%、2.40%、0.40%、0.30%、0.50%。GJB2基因突变26例,占携带者的41.94%;GJB3基因突变4例,占携带者的6.45%;SLC26A4基因突变24例,占携带者的38.71%;线粒体12S rRNA基因突变3例,占携带者的4.84%。299-300 del AT/1975 G>C杂合1例,占携带者的1.61%;176 del 16/IVS7-2A>G杂合1例,占携带者的1.61%;235 del C/538 C>T杂合1例,占携带者的1.61%;235 del C/1975 G>C杂合1例,占携带者的1.61%;2168 A>G/235 del C杂合1例,占携带者的1.61%。配偶行同一基因全长测序,对双方携带同一基因突变的夫妇,遗传咨询后行产前诊断,新生儿听力初筛双耳均通过,继续进行听力随访。结论耳聋基因突变在人群中有较高的携带率,婚检孕前门诊有必要告知患者进行耳聋基因筛查,对检测出的阳性患者及时给予正确解释及遗传咨询,可以明确遗传学病因,为该家庭的生育计划进行风险评估并给予孕育意见,尽可能地杜绝耳聋患儿的出生,降低出生缺陷发生率。
Objective To analyze the screening results of deafness genes among I o01 women before pregnancy in Ningxia area.Methods A total of 1001 women who visited Pre-pregnancy Clinic of Yinchuan Maternal and Child Health Hospital from January 2019 to December 2021 were selected as the study subjects.Under the principle of informed consent,15 hot spot mutation sites of 4 common deafness genes were screened by deafness gene microarray,the spouses of women with deafness gene mutations were sequenced in full length,and prenatal diagnosis was conducted for high-risk fetuses with deafness genes.Results Among 1001 patients with deafness gene detection,62 patients were detected with deafness gene mutation,and the mutation carrying rate was 6.19%.Among them,the mutation carrying rates of GJB2,SLC26A4,GJB3,mitochondrial 12S rRNA,and multi heterozygous gene were 2.60%,2.40%,0.40%,0.30%,and 0.50%,respectively.GJB2 gene mutation was found in 26 cases,accounting for 41.94%of the carriers;GJB3 gene mutation was found in 4 cases,accounting for 6.45%of the carriers;SLC26A4 gene mutation was found in 24 cases,accounting for 38.71%of the carriers;mitochondrial 12S rRNA gene mutation was found in 3 cases,accounting for 4.84%of the carriers.One case was found with 299-300 del AT/1975 G>C heterozygosis,accounting for 1.61%of the carriers;one case was found with 176 del 16/IVS7-2A>G heterozygosis,accounting for 1.61%of the carriers;one case was found with 235 del C/538 C>T heterozygosis,accounting for 1.61%of the carriers;one case was found with 235 del C/1975 G>C heterozygosis,accounting for 1.61%of the carriers;one case was found with 2168 A>G/235 del C heterozygosis,accounting for 1.61%of the carriers.The spouse sequenced the entire length of the same gene.After genetic counseling,one of the couples underwent interventional prenatal diagnosis after pregnancy,and the neonate passed primary screening of both ears,hearing follow-up was continued.Conclusion The mutation of deafness genes has a high carrying rate in the population.It is necessar
作者
杨玉清
朱小燕
金锐
YANG Yu-qing;ZHU Xiao-yan;JIN Rui(Department of Reproductive Health,Yinchuan Maternal and Child Health Care Hospital,Yinchuan,Ningxia 750001,China)
出处
《中国妇幼保健》
CAS
2024年第14期2714-2717,共4页
Maternal and Child Health Care of China
基金
宁夏回族自治区银川市科学技术局科技支撑项目(2023SF26)。
关键词
耳聋基因
婚检孕前门诊就诊女性
耳聋预防
Deafness gene
Premarital and prepregnancy examination outpatient clinic woman
Prevention of deafness
