新生儿常见聋病易感基因携带情况研究  

A study on the detection rate of deafness predisposing genes among newborns

作　　者：余红[1] 杨晶群[1] 刘丹[1] 孙冬梅[2] 吴志强[2] 

机构地区：[1]绍兴市妇幼保健院,浙江绍兴312000 [2]杭州华大基因研究中心

出　　处：《浙江预防医学》2015年第3期221-224,共4页Zhejiang Journal of Preventive Medicine

基　　金：浙江省公益性技术应用研究计划项目(2013C33213)

摘　　要：目的了解新生儿常见聋病易感基因携带情况,为预防遗传性耳聋提供依据。方法应用基质辅助激光解吸电离飞行时间质谱技术,对绍兴市新生儿在听力筛查的同时进行GJB2、GJB3、线粒体12srRNA、SLC26A4等4个常见聋病易感基因的筛查,检测位点包含以上基因的20个突变位点。结果 4 025名新生儿中检出聋病易感基因231人,阳性率5.74%,其中致病突变7人(235del C纯合突变1人、235del C杂合突变加299_300del AT杂合突变1人、线粒体12S rRNA纯合突变5人),总致病突变检出率1.74‰。单个位点杂合突变携带223人,阳性率5.54%;检出突变位点14个,突变频率最高的是GJB2 235del C位点109人,阳性率2.71%,占总突变检出率的47.19%,其次是IVS7-2A→G杂合突变50人,阳性率1.24%,占总突变检出率的21.65%。结论新生儿中聋病易感基因检出率较高,扩大筛查位点可提高聋病基因检出率。Objective To learn the detection rate of deafness predisposing genes among newborns in order to provide suggestions for the prevention of hereditary hearing loss. Methods By means of MALDI- TOF,a total of 4 025 newborns were accepted for newborn hearing and deafness predisposing genetic screening. Four common deafness predisposing genes including GJB2,GJB3,12 SrRNA and SLC26A4 were detected,which included 20 hot mutation sites. Results Of the4 025 subjects,231 were detected with deafness predisposing genes and the positive rate was 5. 71%. The total rate of pathogenic mutation was 1. 74‰（ 7 /4 025）,including 1 with GJB2 235 del C homozygous mutation,1 with GJB2 235 del C heterozygous mutation plus 299_300 del AT heterozygous mutation and 5 with 12 SrRNA homozygous mutation. The positive rate of single heterozygous mutation was 5. 54%（ 223 /4 025）. Fourteen hot mutation sites were detected. GJB2 235 del C was the most common one,followed by IVS7- 2A→G. There were 109 cases with GJB2 235 del C and 50 cases with IVS7- 2A→G. The positive rate was 2. 71% and 1. 24% respectively,which was 47. 19% and 21. 65% of the total detection rate respectively. Conclusion The detection rate of deafness predisposing genes is high among newborns. Expanding screening sites could facilitate the detection for the carrier of deafness gene.

关 键 词：新生儿 聋病基因 筛查 突变 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]