全外显子测序联合基因组拷贝数变异测序在儿科遗传病诊断中的应用  

Application of WES accompanied by CNVseq in the diagnosis of pediatric genetic diseases

作　　者：张华[1] 刘敏[1] 袁路[1] 杨黎明[1] 张富青[1] Zhang Hua;Liu Min;Yuan Lu;Yang Liming;Zhang Fuqing(Reproductive Genetics,Women&Infants Hospital of Zhengzhou,Zhengzhou 450012,China)

机构地区：[1]郑州市妇幼保健院生殖遗传科,郑州450012

出　　处：《国际医药卫生导报》2024年第4期529-534,共6页International Medicine and Health Guidance News

基　　金：河南省医学科技攻关计划项目(2018020717)。

摘　　要：目的探讨全外显子测序(whole exome sequencing,WES)联合基因组拷贝数变异测序(copy number variation sequencing,CNVseq)在儿科遗传病诊断中的应用价值。方法选取2019年8月至2023年7月郑州市妇幼保健院新生儿科及儿科收治的怀疑患有遗传性疾病或临床诊断不明确的患儿为研究对象,采集患儿及其父母外周血进行WES及CNVseq检测,对检出的变异进行分类及评级,并进行一代测序或qPCR验证。结果共纳入患儿33例,其中男性18例,女性15例,年龄范围为1 d~8岁。WES的阳性检出率为36.4%(12/33),CNVseq阳性检出率为9.1%(3/33),两者联合阳性检出率为45.5%(15/33)。结论WES联合CNVseq是儿童遗传性疾病分子诊断的有力工具,可作为一线检测手段在临床大力推广。Objective To explore the significance of whole exome sequencing(WES)accompanied by copy number variation sequencing(CNVseq)in the diagnosis of pediatric genetic diseases.Methods Children with suspected genetic diseases or unclear clinical diagnosis admitted to the departments of neonatology and pediatrics of Women&Infants Hospital of Zhengzhou from August 2019 to July 2023 were selected as the study objects.The peripheral blood of the children and their parents were collected for WES and CNVseq.The detected genetic mutations were classified according to American College of Medical Genetics and Genomics(ACMG)classification,and Sanger sequencing or qPCR was performed to verify the mutations.Results A total of 33 children were enrolled,including 18 boys and 15 girls,aged 1 d to 8 years.The positive detection rate of WES was 36.4%(12/33),the positive detection rate of CNVseq was 9.1%(3/33),and the positive detection rate of the combination of WES and CNVseq was 45.5%(15/33).Conclusion WES accompanied by CNVseq is a powerful tool for molecular diagnosis of pediatric genetic diseases and can be widely used as a first-line detection method in clinical practice.

关 键 词：全外显子测序 基因组拷贝数变异测序 遗传病 检出率 儿童 

分 类 号：R725.9[医药卫生—儿科]