1234例新生儿听力与聋病易感基因联合筛查  

A universal newborn hearing screening with hearing and deafness predisposing genes in 1234 newborn babies

作　　者：李丽[1] 何健[2] 郭玉芬[1] 兰兰[3] 袁逸铭[1] 刘亚珍[2] 张虹[1] 丁海娜[3] 满荣军[1] 历建强[3] 杨菊兰[2] 王大勇[3] 郭晖[2] 王秋菊[3,4] 

机构地区：[1]兰州大学第二医院耳鼻咽喉头颈外科,甘肃兰州730030 [2]甘肃省人民医院耳鼻咽喉头颈外科,甘肃兰州730000 [3]解放军总医院耳鼻咽喉头颈外科,解放军耳鼻咽喉研究所,北京100853 [4]国家人类基因组北方研究中心,北京100176

出　　处：《中国耳鼻咽喉头颈外科》2009年第4期187-189,共3页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：国家863项目(2006AA02Z181);国家自然基金重点项目(30830104);国家自然基金面上项目(30572016;30672310;30771203);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);军队"十一五"杰出人才项目(06J018);北京市科技计划重大项目(D0906005040291);国家973项目(2007CB507400);北京市重大专项课题项目(7070002);国家"十一五"科技支撑计划(2006BAI02B06&2007BAI18B12);甘肃省中青年基金课题(3YS061-A25-012);兰州大学医学科研基金(LZUYX200643)联合资助

摘　　要：目的探讨新生儿听力与聋病易感基因联合筛查的必要性。方法以2007年11月～2008年10月期间出生的1234例新生儿作为研究对象,对每个研究对象在出生后给予听力筛查和聋病易感基因的同步筛查。进行筛查的3个最为常见聋病基因分别是mtDNA A1555G、GJB2和SLC26A4。结果基因筛查未通过者32例,其中2例为mtDNA A1555G突变阳性,GJB2基因235delC杂合突变20例,SLC26A4基因IVS7-2A>G杂合突变10例。耳聋基因阳性率26‰(32/1234)。32例中5例未通过听力筛查初筛。1234例中112例未通过听力初筛。结论聋病易感基因的同步筛查,弥补了单纯新生儿听力筛查的不足,应该得到广泛的开展。OBJECTIVE To investigate the essentiality of universal newborn hearing screening with hearing and deafness predisposing genes. METHODS One thousand two hundred and thirty four newborn babies born from November 2007 to October 2008 were accepted for universal newborn hearing screening with hearing and deafness predisposing genes. The three most common deafness genes including mtDNAA1555G, GJB2 and SLC26A4 were detected. RESULTS The deafness gene screening showed there were 32 carriers in the 1234 babies. 2 babies of the total had the mtDNA A1555G pathogenic mutation, 20 babies were 235delC heterozygote carriers and 10 babies were IVS7-2A〉G heterozygote carriers. The carrying rate of deafness gene was 26‰ （32/1234） . In the 32 carriers, there are 5 babies showed ‘refer＇ at the first step of hearing screening. In the 1234 babies, 112 babies showed ‘refer＇ at the first step of hearing screening. CONCLUSION Deafness gene screening can make up for the deficiencies of the universal newborn hearing screening, and should be used in this kind screening more widely.

关 键 词：新生儿筛查 婴儿 预防卫生服务 基因 

分 类 号：R764[医药卫生—耳鼻咽喉科]