北京市海淀区2012-2014年新生儿耳聋基因筛查管理现状分析  

Analysis on the management situation of deafness-related gene screening results in Haidian district of Beijing from 2012 to 2014

作　　者：韩萍[1] 邵瑜[1] 

机构地区：[1]北京市海淀区妇幼保健院,100080

出　　处：《中国妇幼卫生杂志》2015年第3期62-65,共4页Chinese Journal of Women and Children Health

摘　　要：目的分析北京市海淀区新生儿耳聋基因筛查管理现状,为制定管理决策提供依据。方法对海淀区2012-2014年所有助产医疗机构新生儿耳聋基因筛查数据进行回顾性分析。结果 2012年10月1日-2014年9月30日北京市海淀区共分娩新生儿90 816人,耳聋基因筛查89 924人,筛查率99.02%。发现耳聋基因突变4225例,基因携带率4.70%。在89 924例筛查新生儿中,筛查出GJB 2基因杂合突变2296例（携带率为2.55%）,GJB 3基因杂合突变292例（携带率为0.32%）,SLC26A4基因杂合突变1428例（携带率为1.59%）,线粒体12S rRNA基因均质或异质突变192例（携带率为0.21%）,GJB 2基因纯合突变10例（携带率为0.01%）,SLC26A4基因纯合突变7例（携带率为0.01%）。此外,筛查发现同时具有2~3个基因突变携带者66例（携带率为0.07%）。在所有携带有耳聋基因突变的儿童中,有14名儿童诊断为听力损失,其中2名儿童是耳聋基因杂合突变,12例为耳聋基因纯合突变。结论新生儿耳聋基因筛查可以弥补听力筛查的不足,可以预知与遗传有关的迟发性听力损失和潜在的听力损失高危儿童。为提高对整体筛查流程的监管和筛查质量,应该整合新生儿耳聋基因筛查信息系统和新生儿听力筛查信息系统。加强对新生儿家长有关耳聋基因筛查和听力筛查知识的健康教育。Objective Objective To provide a basis for decision-making through analysis of the deafness-related gene screening results in Haidian district of Beijing. Methods The data of the deafness-related gene screening in Haidian district of Beijing from2012 to 2014 was analyzed retrospectively. Results 99. 02% of all the newborns received deafness-related gene screening in Haidian district during the period of October 1,2012 to September 30,2014. The numbers of newborns who carried heterozygous mutations in GJB2,GJB3,and SLC26A4 were 2296,292,and 1428 respectively,and the corresponding carrier rates were 2. 55%,0. 32% and1. 59%,respectively. The number of newborns who carried homogeneous or heterogeneous mutation in mitochondrial 12 S rRNA gene was 192 with a carrier rate of 0. 21%. 10 cases were shown to carry the GJB2 homozygous mutation while other 7 cases,to carry the SLC26A4 heterozygous mutation. 66 cases were found to carry compound or double heterozygous mutations. At last,14 subjects were confirmed with hearing loss. Of all the 14 children,2 was proved to be the heterozygous mutation and 12 was homozygous mutation.Conclusion The deafness-related gene screening can make up the insufficiency of hearing screening,so to foresee newborns with lateonset and potential hearing impairment. To improve the quality of surveillance procedure and screening,the information system of deafness-related gene screening and hearing screening should be integrated. Expanding education channel and enhancing propaganda dynamism of deafness-related gene screening and hearing screening to improve the congnition of parents.

关 键 词：新生儿 基因筛查 突变 听力筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]