宁波地区19599例新生儿耳聋基因筛查结果分析
Analysis of the results of gene screening for deafness in 19599 newborns in Ningbo
潘婕文 1潘澍青 1庄丹燕 1陈荣庆 2李海波1
作者信息
- 1. 宁波大学附属妇女儿童医院出生缺陷综合防治中心/宁波市胚胎源性疾病防治重点实验室,浙江宁波 315000
- 2. 浙江博圣生物技术股份有限公司,浙江杭州 310013
- 折叠
摘要
目的 回顾性分析近年来宁波地区新生儿耳聋基因熔解曲线法的筛查结果,了解宁波地区新生儿常见耳聋基因的突变类型和突变携带率,为宁波地区为耳聋疾病防控提供决策依据和策略方向,同时也为临床耳聋基因检测及病因诊断提供参考依据.方法 选取宁波大学附属妇女儿童医院出生的19599例新生儿作为研究对象,采用荧光PCR熔解曲线法对GJB2、SLC26A4、GJB3和线粒体12S rRNA 4种基因共15个突变位点应用荧光PCR熔解曲线法进行耳聋基因检测.结果 本研究共检出基因突变917例,总体检出率为4.68％(917/19599),GJB2基因突变检出率为2.62％;SLC26A4基因突变检出率为1.63％;线粒体12SrRNA基因突变检出率为0.20％;GJB3基因突变检出率为0.28％;同时检出共10例复合杂合变异.结论 宁波地区新生儿耳聋基因突变类型同样是以GJB2基因和SLC26A4基因突变为主.耳聋基因检测对早期预防和治疗耳聋都有重要的意义,建议将耳聋基因筛查作为宁波地区新生儿的常规筛查项目,可以及时发现新生儿人群中的潜在患者,降低宁波地区新生儿听力障碍出生缺陷的发生率.
Abstract
Objective To retrospectively analyze the results of neonatal deafness gene screening in Ningbo in recent years,and to understand the mutation types and mutation carrier rate of common neonatal deafness genes in Ningbo,so as to provide reference for the formulation of deafness prevention and control strategies in Ningbo,and for clinical detection and etiological diagnosis of deafness.Methods A total of 19599 newborns born in Women and Children's Hospital of Ningbo University were selected as the research objects.Fifteen mutation sites of GJB2,SLC26A4,GJB3(c.538C＞T)and mitochon-drial 12S rRNA were detected by fluorescence PCR melting curve method.Results In this study,917 cases of gene mutation were detected,the detection rate was 4.68％,The detection rate of GJB2 gene mutation was 2.62％.The detection rate of SLC26A4 gene mutation was 1.63％.The detection rate of mitochondrial 12S rRNA gene mutation was 0.20％.The detection rate of GJB3 gene mutation was 0.28％.At the same time,a total of 10 complex heterozygous mutations were detected.Conclusion GJB2 gene and SLC26A4 gene are the main mutations of neonatal deafness in this region.Genetic testing for deafness is of great significance for early prevention and early treatment of deafness.It is suggested that genetic testing for deafness should be included in the routine screening of newborns to improve the screening rate of deafness genes in this region.
关键词
新生儿/耳聋基因/基因突变/检出率Key words
newborn/deafness gene/gene mutation/detection rate引用本文复制引用
基金项目
宁波市社会公益项目(2022S035)
宁波市医疗卫生高端团队(2022020405)
宁波市重点技术研发项目(2023Z178)
浙江省医药卫生项目(2023KY1121)
宁波市医学重点学科(2022-F26)
出版年
2024
NETL
NSTL
万方数据