黔西南地区99582位新生儿耳聋基因热点突变筛查结果  

Results of Deafness Gene Hotspot Mutations Screening in 99,582 Neonates in Southwest Guizhou

作　　者：张秀秀 慕容红梅 李盼盼 常华 赵鸿 李琼 向玉婷 唐大春 黄婵 何燕[2] ZHANGI Xiuxiu;MURONG Hongmei;LI Panpan;CHANG Hua;ZHAO Hong;LI Qiong;XIANG Yuting;TANG Dachun;HUANG Chan;HE Yan(Center for Prenatal Diagnosis,Qianxinan Buyei and Miao Autonomous Prefecture People's Hospital,Guizhou 562400,China;Key Laboratory of Endemic and Ethnic Diseases,Ministry of Education,Key Laboratory of Medical Molecular Biology of Guizhou Province,Guizhou Medical University,Guiyang,Guizhou 550004,China)

机构地区：[1]黔西南布依族苗族自治州人民医院产前诊断中心,黔西南布依族苗族自治州562400 [2]地方病与少数民族疾病教育部重点实验室&贵州省医学分子生物学重点实验室,贵州医科大学,贵阳550004

出　　处：《中华耳科学杂志》2022年第4期612-619,共8页Chinese Journal of Otology

基　　金：国家自然科学基金资助(31560306)。

摘　　要：目的 对黔西南州2016年06月-2020年10月出生的99582名新生儿的耳聋基因突变情况进行分析,为新生儿耳聋基因突变防控提供科学依据。方法 运用微测序技术(Microsequencing)检测黔西南地区99582位新生儿4个遗传性耳聋基因的20个常见突变位点,采用ArcMap 10.2软件基于筛查数据绘制当地耳聋空间分布图。结果 99582名新生儿中,共检测出耳聋基因异常者2812例(2.82%),其中GJB2基因杂合突变1594例(1.60%),线粒体DNA 12SrRNA突变187例(0.19%),SLC26A4基因杂合突变型812例(0.82%),GJB3基因突变192例(0.19%),复合杂合突变型27例(0.03%),在空间分布中存在高发区。结论 黔西南州地区新生儿常见耳聋基因突变以GJB2基因突变为主。基因突变率以兴义市、普安县和兴仁市居多,针对高发区应加强筛查力度以减少耳聋的发生。Objective To report deafness-associated gene mutations in 99,582 neonates screened from June 2016to October 2020 in southwest Guizhou,so as to improve prevention and control of deafness-associated birth defects in the local population.Methods The microsequencing technology was used to detect 20 mutation sites of the 4 most common deafness genes in 99,582 newborns in southwest Guizhou,The ArcMap 10.2 software was used to produce a local distribution map using the screening data.Results Abnormal deafness genes were detected in 2,812 of the 99,582 newborns(2.82%),involving mutations of the GJB2 gene(n=1,594,1.6%),12SrRNA mitochondrial DNA(n=187,0.18%),SLC26A4 gene(n=812,0.82%) and GJB3 gene(n=192,0.19%),as well as complex gene mutations(n=27,0.03%).Hotspots of these mutations in local distribution were identified.Conclusion GJB2 gene mutations dominate common deafness gene mutations among newborn in the southwest Guizhou region.Higher rates of deafness gene mutations are identified in Xingyi,Puan and Xingren,emphasizing the importance of screening in these high-risk areas to reduce the occurrence of deafness at birth.

关 键 词：新生儿 耳聋基因 微测序 突变 

分 类 号：R764[医药卫生—耳鼻咽喉科]