怀柔区新生儿耳聋易感基因携带情况调查与分析  

Investigation and analysis of neonatal deafness susceptibility gene carriers in Huairou District

作　　者：于艳岚 于洋 费秀珍[1] YU Yanlan;YU Yang;FEI Xiuzhen(Huairou Maternal and Child Health Hospital,Beijing Obstetrics and Gynecology Hospital Affiliated to Capital Medical University,Beijing 101400,China)

机构地区：[1]首都医科大学附属北京妇产医院怀柔妇幼保健院,北京101400

出　　处：《中国医药科学》2018年第20期197-199,248,共4页China Medicine And Pharmacy

摘　　要：目的调查分析怀柔地区新生儿耳聋易感基因携带情况。方法应用微阵列芯片法对2013～2017年在怀柔区出生的17290例新生儿GJB2、SLC26A4、GJB3和线粒体12SrRNA等4个常见耳聋相关致病基因的9个热点突变位点进行检测,分析各基因突变位点的检测阳性率。结果 17290例新生儿中耳聋基因筛查阳性805例,阳性率为4.66%。不同年份,阳性率差异无统计学意义(P> 0.05)。其中GJB2突变410例,(2.37%),SLC26A4突变286例(1.65%),GJB3突变56例(0.32%),线粒体12SrRNA基因突变1555A> G位点47例(0.27%),双基因复合杂合突变6例(0.03%)。结论耳聋易感基因检测有利于迟发型高危新生儿或致病基因携带新生儿筛查,有助于遗传性耳聋早发现、早诊断、早治疗。Objective To investigate and analyze the susceptibility gene carriers of neonatal deafness in Huairou area. Methods Nine hotspot mutation sites of four common deafness-related genes,GJB2,SLC26A4,GJB3 and mitoehondrial 12SrRNA,were detected in 17 290 newborns born in Huairou District from 2013 to 2017 by mieroarray mieroarray method,and the positive rate of each gene mutation site was analyzed. Results In 17290 neonates,805 were positive for deafness gene screening,the positive rate was 4.66%.In different years,there was no difference in the positive rate.Among them,410 eases （2.37%） had GJB2 mutation,286 eases （1.65%） had SLC26A4 mutation,56 eases （0.32%） had GJB3 mutation,47 eases （0.27%） had mitochondrial 12S rRNA mutation at 1555A 〉 G site,and 6 eases （0.03%） had double gene hybrid mutation. Conclusion Detection of deafness susceptibility genes is helpful for screening late-onset high-risk neonates or neonates canting pathogenic genes,early detection,diagnosis and treatment of hereditary deafness.

关 键 词：听力损失 遗传因素 基因筛查 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]