摘要
目的通过分析淮安市新生儿耳聋基因筛查数据,了解淮安市新生儿耳聋基因突变位点、类型及突变率。探讨新生儿耳聋基因筛查在临床耳聋疾病防治和生育指导方面的意义。方法选择2019年12月至2020年9月在淮安市出生并自愿接受耳聋基因检测的7660例新生儿为研究对象。采集出生3~7天充分哺乳的新生儿足跟血血斑,提取基因组DNA,对中国人群常见的4种耳聋基因(GJB2、GJB3、SLC26A4、线粒体12SrRNA)的15个突变热点进行筛查,同时进行新生儿听力筛查。结果7660例受检新生儿中,共检出耳聋基因突变者478例,突变携带率为6.24%。单基因突变467例,其中GJB2突变228例,突变携带率约2.98%;GJB3突变28例,突变携带率约0.37%;SLC26A4突变193例,突变携带率约2.52%;线粒体12SrRNA突变18例,突变携带率约0.23%。两个及以上耳聋基因突变11例,其中GJB2双杂合突变2例;GJB2/SLC26A4双杂合突变7例;GJB2/GJB3双杂合突变1例;GJB2/线粒体12SrRNA双杂合突变1例。在7660例新生儿听力筛查结果中,听力筛查未通过有效数据39例,未通过率0.51%。结论淮安市新生儿耳聋基因突变频率相对较高,其中以GJB2突变和SLC26A4突变为主。基因筛查有助于明确病因,预防和治疗相关疾病以及指导生育。
【Objective】To investigate the mutation loci,types and frequency of neonatal deafness-related genes in Huai’an by analyzing the screening data,as well as looking into the significance of screening for the prevention and treatment of deafnessrelated diseases and the instruction of fertility.【Methods】A total of 7660 heel-prick blood samples of newborns who are fully breastfed 3~7 days after birth were collected.The genomic DNA were extracted and screened for the 15 mutation hots in 4deafness-related genes(GJB2,GJB3,SLC26A4 and mt12SrRNA).The neonatal hearing screening was performed simultaneously.【Results】A total of 478 cases of deafness gene mutations were detected in 7660 newborns with a mutation carrier rate of 6.24%.Totally 467 cases were single gene mutation with 228 GJB2 mutation(2.98%),28 GJB3 mutation(0.37%),193 SLC26A4(2.52%)and 18 mt12SrRNA mutation(0.23%).Eleven cases were double or multiple gene mutation with 2 GJB2 double heterozygous mutation(DHM),7 GJB2/SLC26A4 DHM,1 GJB2/GJB3 DHM and 1 GJB2/mt12SrRNA DHM.The neonatal hearing screening showed that 39(0.51%)cases failed in the examination.【Conclusion】The mutation frequency of neonatal deafness-related genes was relatively higher in Huai’an,and GJB2 and SLC26A4 were the main mutations.Gene screening could contribute to clarifying the causes,preventing and treating the related diseases and instructing the fertility.
作者
孙春霞
朱晓琴
王玉美
王慧
丁伟洁
张长立
SUN Chunxia;ZHU Xiaoqin;WANG Yumei;WANG Hui;DING Weijie;ZHANG Changli(Huai'an Maternity and Child Health Care Hospital,Huai'an,Jiangsu 223001,China;Ministry of health,Huaian Maternity and Child Health Care Hospital,Huai'an,Jiangsu 223001,China;Neonatal Disease Screening Department,Huaian Maternity and Child Health Care Hospital,Huai'an,Jiangsu 223001,China;Group health care department,Huaian Maternity and Child Health Care Hospital,Huai'an,Jiangsu 223001,China;School of Public Policy Management,China University Of Mining And Technology,Xuzhou,Jiangsu 221000,China)
出处
《中国医学工程》
2022年第9期14-18,共5页
China Medical Engineering
基金
江苏省妇幼健康科研项目(F201932)
淮安市科技项目(HAB202043)
江苏省医院管理创新研究课题(JSYGY-3-2020-442)。
关键词
新生儿
耳聋基因
突变筛查
newborn
deafness-related gene
mutation screening
