中国部分地区新生儿耳聋基因筛查现况调查  

Current status of newborn deafness gene screeningin parts of China

作　　者：文铖 黄丽辉[1] 解舒婷 赵雪雷[1] 于一丁 程晓华[1] 郭玲 聂文英 葛芳 王川[5] 刘清明[6] 胡书君 陈亚秋[8] 高曼 韩军宁[10] WEN Cheng;HUANG Lihui;XIE Shuting;ZHAO Xuelei;YU Yiding;CHENG Xiaohua;GUO Ling;NIE Wenying;GE Fang;WANG Chuan;LIU Qingming;HU Shujun;CHEN Yaqiu;GAO Man;HAN Junning(Department of Otolaryngology Head and Neck Surgery,Beijing Tongren Hospital,Capital Medical University,Beijing Institute of Otolaryngology,Key Laboratory of Otolaryngology Head and Neck Surgery,Ministry of Education,Beijing,100730,China;Jining Maternal and Child Health Care Center;Jinan Maternal and Child Health Hospital Affiliated to Shandong First Medical University;Shijiazhuang Maternal and Child Health Hospital;Beijing Chaoyang Maternal and Child Health Care Hospital;Zhuhai Maternal and Child Health Care Center;Maternal and Child Health Care Center of Luoyang;Tianjin Maternal and Child Health Care Center;Hearing Impairment Diagnosis Center,Dezhou Maternal and Child Health Care Hospital;Zibo Maternal and Child Health Hospital)

机构地区：[1]首都医科大学附属北京同仁医院耳鼻咽喉头颈外科,北京市耳鼻咽喉科研究所,耳鼻咽喉头颈科学教育部重点实验室,北京100730 [2]济宁市妇幼保健院 [3]山东第一医科大学附属济南妇幼保健院 [4]石家庄市妇幼保健院 [5]北京市朝阳区妇幼保健院 [6]广东省珠海市妇幼保健院 [7]河南省洛阳市妇幼保健院 [8]天津市妇女儿童保健中心 [9]山东省德州市妇幼保健院 [10]山东省淄博市妇幼保健院

出　　处：《临床耳鼻咽喉头颈外科杂志》2020年第11期972-977,共6页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家重点研发计划项目(No:2018YFC1002200);国家自然科学基金面上项目(No:81870730)。

摘　　要：目的:分析我国多地区2016年及2017年新生儿耳聋基因筛查现况,为进一步推广应用提供参考。方法:将专家论证后的"新生儿耳聋基因筛查调查问卷"发送至我国东中西部41家助产机构,调查2016-01-2017-12期间,各机构开展新生儿耳聋基因筛查的情况、筛查方案、筛查人数及阳性检出情况等。各机构返回问卷,调查人员进行数据核实及实地质量抽检,对返回问卷进行整理,最后对数据完整并符合要求的问卷进行筛查方案及各个基因阳性检出率等的分析。结果:发出41份调查问卷,返回41份,问卷返回率为100%,其中数据完整12份。41家机构中开展新生儿耳聋基因筛查15家,开展率为36.59%(15/41),其中东部开展率最高为72.22%(13/18),各地区间差异有统计学意义。数据完整的12份问卷,筛查方案为:首先是4个基因9个位点及4个基因20个位点分别为4家,占比最高,均为33.33%(4/12),其次为4个基因15个位点3家(25%,3/12)及3个基因5个位点1家(8.34%,1/12)。本研究共纳入340521例新生儿,筛查阳性17036例,阳性率为5.00%。其中,GJB2基因单杂合变异率2.43%(8269/340521),双等位基因变异率0.02%(56/340521);SLC26A4基因单杂合变异率1.99%(6771/340521),双等位基因变异率0.01%(39/340521);GJB3基因单杂合变异率0.33%(1140/340521);线粒体12SrRNA基因变异率0.22%(746/340521);双基因杂合变异率0.004%(15/340521)。结论:2016—2017年,新生儿耳聋基因筛查在我国东部地区开展状况较中西部广泛,提示应进一步加强中西部地区的发展,不断缩小地区间差异。在已开展耳聋基因筛查的机构中,4个基因9个位点及4个基因20个位点的筛查方案应用较广,GJB2基因及SLC26A4基因变异最为常见,可为即将开展新生儿耳聋基因筛查的地区提供参考。Objective:To analyze the current status of newborn deafness gene screening from 2016 to 2017 in multiple regions of China,and to provide a reference for further promotion and application.Method:The"newborn deafness gene screening questionnaire"was sent to 41 institutions in eastern,central and western China after expert demonstration.The survey content included status of genetic screening,screening methods,the number of screenings,and the status of positive detections from January 1 st,2016 to December 31 th,2017.Each institution returned the questionnaire,the investigator conducted data verification and quality sampling.Finally,we performed analysis of screening methods and the positive detection rate of each gene on questionnaires with complete data.Result:Forty-one questionnaires were sent out and 41 were returned,the questionnaire return rate was 100%,in which 12 questionnaires were complete.Of the 41 institutions,15 carried newborn deafness gene screening,with a rate of 36.59%(15/41).The highest rate was in the east(72.22%,13/18),and the differences among the regions were statistically significant.As for the screening methods,among 12 questionnaires with complete data,9 variants in 4 genes and 20 variants in 4 genes accounted for the highest proportion,both with the rate of 33.33%(4/12),followed by 15 variants in 4 genes(25%,3/12)and 5 variants in 3 genes(8.34%,1/12).A total of 340,521 neonates were included in the study,and 17,036 were positive for screening,with a positive rate of 5.00%.Among them,the single heterozygous mutation rate of GJB2 gene was 2.43%(8269/340,521),the biallele mutation rate was 0.02%(56/340,521),the single heterozygous mutation rate of SLC26 A4gene was 1.99%(6771/340,521),the biallele mutation rate was 0.01%(39/340,521),the single heterozygous mutation rate of GJB3 gene was 0.33%(1140/340,521),the mitochondrial 12 SrRNA gene mutation rate was 0.22%(746/340,521)and the double-gene heterozygous mutation rate was 0.004%(15/340,521).Conclusion:From 2016 to 2017,the newborn deafness gene

关 键 词：新生儿 耳聋基因筛查 GJB2基因 SLC26A4基因 线粒体12SrRNA基因 GJB3基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]