新生儿耳聋基因筛查结果分析  

Analysis of Genetic Screening Results for Deafness in Newborns

作　　者：黄银花 钟微微 HUANG Yin-hua;ZHONG Wei-wei(Disinfection Supply Room,Chongren Maternal and Child Health Hospital,Chongren 344299,Jiangxi Province,China;Department of Neonatology and Pediatrics,Jiujiang Maternal and Child Health Hospital,Jiujiang 332001,Jiangxi Province,China)

机构地区：[1]崇仁妇幼保健院消毒供应室,江西崇仁344299 [2]九江市妇幼保健院新生儿科,江西崇仁332001

出　　处：《罕少疾病杂志》2024年第11期31-33,共3页Journal of Rare and Uncommon Diseases

基　　金：2023年度省卫生健康委科技计划项目(202311612)。

摘　　要：目的分析1000例新生儿耳聋基因筛查结果。方法回顾性分析2022年1月至2023年1月1000例足月新生儿耳聋基因筛查结果。新生儿出生满3日后进行足跟采血,利用实时荧光定量PCR法对常见的基因位点进行筛查。同时采用耳声发射法在出生后48-72小时开展听力初筛,初筛未通过者在出生后42日进行听力复筛,复筛未通过者于出生后6个月进行听力评估与诊断。对比两组检查方法新生儿而来检出率。结果1000例新生儿中共32例出现耳聋基因筛查突变,占比为32/1000(3.20%)。检出位点如下:GJB2共检出17例(为0.17%),其中235del C纯合突变检出3例(0.03%)、235del C杂合突变检出8例(0.08%)、176del16纯合突变检出1例(0.01%)、176del16杂合突变检出1例(0.01%)、427-C>T杂合突变检出1例(0.01%)、235del C杂合突变/299del AT杂合突变检出1例(0.01%)、235del C杂合突变/257CD>G杂合突变检出1例(0.01%)、235del C杂合突变/427C>T杂合突变检出1例(0.01%)。SLC26A4共检出6例(0.06%),其中919-2A>G纯合突变检出2例(0.02%)、919-2A>G杂合突变检出4例(0.04%)。12sr RNA共检出4例(0.04%),其中1494C>T均质性突变检出1例(0.01%)、1555A>G均质性突变检出2例(0.02%)、1555A>G异质性突变检出1例(0.01%)。GJB2/SLC26A4共检出2例(0.02%),其中235del C/919-2>AG复杂杂合突变检出1例(0.01%)、299del AT/919-2>AG复杂杂合突变检出1例(0.01%)。GJB2/12sr RNA共检出3例(0.03%),其中235del C杂合突变/1494C>T均质性突变检出1例(0.01%)、299del AT杂合突变/1555A>G均质性突变检出1例(0.01%);基因筛查新生儿耳聋阳性检出率高于听力筛查(P<0.05),分别为0.32%、0.18%。结论新生儿耳聋基因筛查结果显示基因突变主要位点为GJB2,通过耳聋基因筛查有利于早期发现早期干预。Objective To probe into the genetic screening results in 1000 newborns of deafness.Methods The genetic screening results about 1000 full-term newborns of deafness admitted from January 2022 to January 2023 were retrospectively analyzed.The heel blood samples were collected after 3 days of birth;the common genetic loci were screened through the real-time quantitative real-time PCR.The hearing screening was initially carried out by the otoacoustic emission method after 48-72 hours of birth.After 6 months of birth,the hearing screening and diagnosis were performed for the newborns of failing the initial screening.The detection rates of newborn deafness were compared based on two examination methods.Results A total of 32 newborns were found with gene mutations(32/1000,3.20%).17 newborns were detected in GJB 2 genetic locus(0.17%),including 3 cases of 235 delC homozygous mutation(0.03%),8 cases of 235delC heterozygous mutation(0.08%),one case of 176del16 homozygous mutations(0.01%),one case of 176del16 heterozygous mutation(0.01%),one case of 427-C>T heterozygous mutation(0.01%),one case of 235delC heterozygous mutation/299delAT heterozygous mutation(0.01%),one case of 235delC heterozygous mutation/257CD>G heterozygous mutation(0.01%),one case of 235delC heterozygous mutation/427C>T heterozygous mutation(0.01%).6 newborns were detected in SLC26A4 genetic locus(0.06%),including two cases of 919-2A>G homozygous mutation(0.02%)and 4 cases of 919-2A>G heterozygous mutation(0.04%).4 newborns were detected in 12srRNA genetic locus(0.04%),including one case of 1494C>T homogeneity mutation(0.01%),2 cases of 1555A>G homogeneity mutation(0.02%)and one case of 1555A>G heterogeneity mutation(0.01%).2 newborns were detected in GJB2/SLC26A4 genetic locus(0.02%),including one case of 235delC/919-2>AG complicated heterozygotic mutation(0.01%)and one case of 299delAT/919-2>AG complicated heterozygotic mutation(0.01%).3 newborns were detected in GJB2/12srRNA genetic locus(0.03%),including one one case of 235delC heterozygous mutation/1

关 键 词：新生儿耳聋 基因筛查 听力筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]