【摘要】 目的通过对武汉市部分新生儿进行耳聋易感基因与听力联合筛查,探讨本地区常见耳聋基因突变位点分布及联合筛查的意义。方法对2014年6~12月和2015年6~11月在武汉市92家助产机构出生的117 930例新生儿进行听力筛查,同时采集足跟血,检测3个常见耳聋基因的4个位点:GJB2(235delC)、SLC26A4(919-2A>G)和线粒体DNA12SrRNA(1555A>G,1494C>T),分析听力及基因筛查结果。结果 117 930例新生儿中,耳聋基因总体突变率为3.00%(3 541/117 930),以GJB2 235delC(1.87%,2 203/117 930)和SLC26A4 919-2A>G(0.96%,1 132/117 930)突变占比最高。109 036例(92.46%,109 036/117 930)新生儿通过了基因与听力联合筛查,5 353例(4.54%,5 353/117 930)新生儿基因筛查通过而听力筛查未通过,3 231例(2.74%,3 231/117 930)新生儿基因筛查未通过而听力筛查通过,310例(0.26%,310/117 930)听力筛查与基因筛查均未通过,耳聋基因突变患儿的听力筛查未通过率(8.75%)高于耳聋基因筛查通过新生儿(4.88%);最终确诊206例新生儿听力损失。结论新生儿耳聋基因与听力联合筛查可以有效地提高听力障碍及高危儿的检出率。更多还原

【Abstract】 Objective To investigate the prevalence and distribution of deafness gene mutations by the joint screening of deafness-related genes and hearing in Wuhan.Methods A total of 117 930 newborns born in 2014 and2015 volunteered to participate in this study.Besides traditional hearing screening,heel blood of all subjects were collected to detect four sites of three common deafness genes GJB2(235 delC),SLC26 A4(919-2 A> G),and DNA 12 SrRNA(1555 A>G,1494 C>T).Results The total mutation rate of deafness gene was 3.00%in 117 930 newborns.The highest spots were GJB2 235 delC and SLC26 A4 919-2 mutation.A total of 109 036 newborns passed the combined screenings,and 5 353 newborns passed the gene screening,but failed hearing screening.A total of32 131 newborns passed the hearing screening with gene mutation,while 310 newborns failed in both.Newborns with gene mutation were more likely to fail hearing screening.Conclusion This study indicates that neonatal deafness gene screening in combination with hearing screening not only can effectively improve the detection rate of hearing loss or high risk children,but also can provide detailed genetic information to promote the popularization and application of such concurrent screenings.更多还原