广州市地区7234例新生儿耳聋基因突变分析  

Screening and analysis of deafness gene mutations among 7234 newborns in Guangzhou area

作　　者：李玛[1] 叶燕绸[2] 何国炜[1] 董慧敏[1] 李林[1] 胡波[1] 章钧[2] LI Ma;YE Yanchou;HE Guowei;DONG HuiMin;LI Lin;HU Bo;ZHANG Jun(The third affiliated hospital of Sun Yat⁃sen University,Guangzhou,Guangdong,China,510630;Obstet⁃ric Laboratory of the Third Affiliated Hospital of Sun Yat sen University,Guangzhou,Guangdong,China,510630)

机构地区：[1]中山大学附属第三医院检验科,广东广州510630 [2]中山大学附属第三医院产科实验室,广东广州510630

出　　处：《分子诊断与治疗杂志》2020年第1期11-15,共5页Journal of Molecular Diagnostics and Therapy

基　　金：广州市科技产学研协同创新重大专项(201704020114)

摘　　要：目的分析广州地区7234例新生儿4个常见遗传性耳聋基因热点突变情况,为广州地区遗传性耳聋的防治提供依据。方法收集广州市天河区中山大学附属第三医院2015年6月至2019年1月分娩的7234例新生儿脐带血液标本进行耳聋基因热点检测,基因突变新生儿行Sanger测序验证及基因外显子测序。结果检测到耳聋基因突变携带者266例(3.68%),其中GJB2基因突变159例(22.0%),SLC26A4基因突变85例(1.18%)。在266例的基因携带者中,GJB2 c.235delC杂合突变占49.6%(132/266),SLC26A4 IVS7-2A>G突变占28.2%(75/266),其余位点占22.2%。携带者一代测序验证结果与耳聋基因筛查结果一致,基因外显子测序中发现有3名双重突变患儿,两例为GJB2 c.235 del C与GJB2 c.109G>A双重杂合突变患儿,另一例为SLC26A4 IVS 7-2 A>G与SLC26A4 c.1983C>A双重杂合突变患儿,3例患儿经父母血液标本验证,双重杂合位点分别遗传自父母。结论本研究7234例新生儿聋基因筛查中,GJB2基因突变频率最高,其次是SLC26A4基因,为耳聋儿童的早期发现与早期干预提供参考与指导。现行热点突变检测位点可能漏检其他突变位点,可根据本地检测情况调整或者制定适合本地的筛查方案。Objective To investigate the spectrum and incidence of 4 hot⁃pot deafness gene muta⁃tions,and establish a suitable screening and diagnosis program of hereditary deafness in Guangzhou.Methods We collected the cord blood samples of 7234 newborns in the Third Affiliated Hospital of Sun Yat⁃sen Uni⁃versity from June 2013 to January 2018.The hot⁃pot deafness gene mutations,were detected by polymerase chain reaction and microarray.Results 266 cases(3.68%)with deafness gene mutation were detected,in⁃cluding 159 cases(2.20%)with GJB2 gene mutation and 85 cases(1.18%)with SLC26A4 gene mutation.Among 266 positive gene mutation,GJB2 c.235 del C heterozygous mutation accounted for 49.6%(132/266),SLC26A4 IVS7⁃2 A>G mutation accounted for 28.2%(75/266),and the rest accounted for 22.2%.The results of the first generation sequencing of positive gene mutation were consistent with the results of deafness gene screening.Three children with double mutation were found in exon sequencing,two children with GJB2 c.235 del C and GJB2 c.109 G>A double heterozygous mutation,the other one with SLC26A4 IVS 7⁃2 A>G and SLC26A4 c.1983c>a double heterozygous mutation.Three children with double heterozygous mutation were identified by their parents􀆳blood samples.Conclusion The GJB2 and SLC26A4 mutations are the main muta⁃tion genes.It can provide the reference and guidance for early detection and intervention of newborn with deaf⁃ness.The current hot⁃spot mutation detection sites may miss other mutation sites,which can be adjusted accord⁃ing to the local detection situation or develop a suitable screening program.

关 键 词：新生儿耳聋基因筛查 热点突变 GJB2基因 SLC26A4基因 Sanger测序 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]