石家庄市新生儿耳聋基因筛查结果分析

Analysis of the deafness gene screening results from newborns in Shijiazhuang

目的:构建石家庄市新生儿耳聋基因突变携带率信息储备库。方法:新生儿出生后3d采足跟血,应用荧光定量PCR法进行遗传性耳聋GJB2基因(235delC和299-300delAT)、SLC26A4基因(IVS7-2A>G和2168A>G)和线粒体12SrRNA基因(1555A>G和1494C>T)检测。结果:9 421例新生儿中共发现突变携带者384例,检出率为4.08%,其中158例(1.68%)携带GJB2 235delC杂合突变,1例(0.01%)携带235delC纯合突变,55例(0.58%)携带299-300delAT杂合突变;133例(1.41%)携带IVS7-2A>G杂合突变,1例(0.01%)携带IVS7-2A>G纯合突变,19例(0.20%)携带2168A>G杂合突变;14例(0.15%)携带1555A>G均质突变,3例(0.03%)携带1555A>G异质突变。其中1例(0.01%)同时携带235delC杂合突变和IVS7-2A>G杂合突变和1555A>G异质突变,1例(0.01%)同时携带有235delC和IVS7-2A>G杂合突变。结论:GJB2基因235delC位点和SLC26A4基因IVS7-2A>G位点是石家庄市新生儿耳聋基因突变的热点位点;初步建成石家庄市新生儿耳聋基因突变率信息储备库。

Objective：To build information repository of the carrying rate of neonatal deafness gene in Shiji azhutmg. Method：Blood samples were collected from the heel in 3-days neonates. Mutations of the deafness related genes were detected by the method of fluorescent PCR. Neonates received the detection of 6 mutation sites from 3 genes, including GJB2 （ 235delC, 299-300delAT）, SLC26A4 （ IVS7-2A 〉 G, 2168A 〉 G）, mitochondrial DNA12S rRNA（1494C〉T,1555A〉G）.Result：There were 384 neonates who carried mutations among 421 subjects and the carrying rate was 4.08%, 158（1.68%） newborns carried heterozygous mutations and 1（0.01%）case carried homogeneous mutation of GJB2 （235 delC）, 55 （0. 58%）neonates carried heterozygous mutations of GJB2 （299-300delAT）;133 （1.41%）neonates carried heterozygous mutations and 1 （0.01%） homogeneous of SLC26A4（IVS7 2A）G）,19（0.20%） newborns carried heterozygous mutations of SLC26A4 （2168A〉G）. The numbers of neonates who carried homogeneous and heterogeneous mutation of mitoehondrial 12S rRNA gene were 14 and 3 with carring rates of 0.15% and 0.03%. Two newborns were found to carry more than one mutation. One carried 235delC, IVS7 2A〉G and 1555A〉G and another carried 235delc and IVST-2A〉G. Conclusion：The main mutational patterns were 235delc from GJB2 gene and IVS7-2A〉G from SLC26A4 gene in Shijiazhuang newborns. The carrying rate information repository of neonatal deafness gene has been built preliminarily.