摘要
目的分析西安灞桥地区新生儿常见遗传性耳聋基因的筛查结果,以及新生儿父母听力情况,为临床产前耳聋基因筛查优生遗传咨询提供参考。方法选择2016年1月-2020年1月西安灞桥地区符合纳入条件的12946例新生儿为研究对象,收集整理新生儿听力筛查和常见遗传性耳聋基因筛查结果、统计患儿耳聋基因突变构成情况。对新生儿耳聋基因阳性患儿父母亲进行耳聋基因筛查,分析耳聋基因突变新生儿父母耳聋高危因素构成情况。结果12946位新生儿经听力筛查和耳聋遗传基因筛查,5例听力筛查及遗传基因检查确诊为听力障碍,420位为耳聋基因阳性,阳性率为3.24%。耳聋基因构成情况:GJB2突变160例、SLC26A4突变150例、mtDNA12S rRNA突变70例、GJB3突变40例;420例耳聋基因突变患儿中父亲耳聋基因突变140例,母亲耳聋基因突变200例,其中父母均为耳聋基因突变80例;420例耳聋基因突变患儿中240例具有耳聋基因突变高危因素(57.14%)与12526例耳聋基因突变阴性患儿中4308例具有高危因素(34.39%)相比,阳性患儿高危因素率显著高于阴性患儿(P<0.05)。结论新生儿常见遗传性耳聋基因突变率较高,对具有高危耳聋因素的父母进行孕前、妊娠期孕妇及新生儿做耳聋基因筛查,有利于及早采取措施进行干预,降低发生不可逆听障风险,提升新生儿健康水平。
Objective To analyze the results of common genetic screening for hereditary deafness in newborns in Baqiao area of Xi’an,and the hearing conditions of the parents of newborns,so as to provide basis for clinical prenatal deafness genetic screening and eugenic genetic consultation.Methods From January 2016 to January 2020,12946 newborns eligible for inclusion in the Baqiao area of Xi’an were selected,and the results of newborn hearing screening and common genetic deafness gene screening were collected,and the composition of deafness gene mutations in the children were counted.Parents of newborns with positive deafness genes were screened for deafness genes,and the composition of high-risk factors for deafness in parents of newborns with deafness gene mutations was analyzed.Results(1)12946 newborns were diagnosed with hearing impairment through hearing screening and genetic genetic screening,5 cases were diagnosed with hearing impairment,420 were positive for deafness gene,the positive rate was 3.24%.Deafness gene mutations included 160 cases of GJB2 mutation,150 cases of SLC26 A4 mutation,70 cases of mtDNA12 S rRNA mutation,40 cases of GJB3 mutation.(2)Among the 420 children with deafness gene mutations,140 of the father’s deafness gene mutations,and 200 of the mothers with deafness gene mutations,of which 80 were parents of deafness gene mutations;(3)240 of the 420 children with deafness gene mutations had deafness Gene mutation high-risk factors(57.14%)compared with 12526 deafness-negative children with high-risk factors(34.39%),the rate of high-risk factors in positive children was significantly higher than that of negative children(P<0.05).Conclusion The mutation rate of common hereditary deafness genes in newborns is relatively high.Pre-pregnancy,pregnancy pregnant women and newborns with parents with high-risk deafness factors should be screened for deafness genes,which is helpful for early intervention to reduce the risk of irreversible hearing loss.Improve the health of newborns.
作者
卞伟妮
吴新婷
郑玲芳
贾毅
骆平莉
李静
BIAN Weini;WU Xinting;ZHENG Lingfang;JIA Yi;LUO Pingli;LI Jing(Department of Neonatology,Second Affiliated Hospital of Xi’an Medical College,Xi’an,Shaanxi 710038,China;Department of Pediatrics,Xi’an Fourth Hospital,Xi’an,Shaanxi 710004,China)
出处
《中国优生与遗传杂志》
2021年第2期162-165,共4页
Chinese Journal of Birth Health & Heredity
关键词
西安灞桥地区
遗传性耳聋基因
孕前及产前筛查
高危因素
Xi’an Baqiao area
hereditary deafness genes
pre-pregnancy and prenatal screening
high-risk factors
