全外显子组测序在河南地区遗传性疾病临床诊断中的应用
Whole-exome sequencing for the diagnosis of genetic diseases in Henan province
韦晨曦 1申剑峰 1任伊佳 1张暋1
作者信息
- 1. 郑州金域临床检验中心有限公司,郑州 450000
- 折叠
摘要
目的:探讨全外显子组测序在河南地区遗传病诊断中的应用价值.方法:选取2019年10月-2022年4月送检至郑州金域临床检验中心的全外显子组测序基因检测的365例患者为研究对象.患者需提供相关临床资料包含主诉、初步诊断及相关检测结果.采集患者及其父母外周血进行全外显子组测序,结合患者的临床表现寻找相关的致病基因,完善遗传学病因诊断.结果:检出率为40.55％(单碱基变异检出率为28.22％,拷贝数变异检出率为12.33％).鉴别12例Duchenne/Becker型肌营养不良、7例甲基丙二酸血症、48例发育迟缓谱系疾病、28例癫痫.结论:全外显子组测序可以对遗传性特异性或非特异性异常疾病表现的患者提供有效分子诊断依据,其通过外显子预测的拷贝数变异可以显著提高检出率.
Abstract
Objective:To investigate the diagnosis and characterization of whole-exome sequencing technologies in the diagnosis of genetic diseases in Henan.Methods:From October 2019 to April 2022,a total of 365 patients with suspected hereditary disorders were analyzed by whole-exome sequencing(WES)at the Zhengzhou KingMed Center for Clinical Laboratory.Patients provided relevant clinical data,including chief complaints,initial diagnosis,and relevant test results.Patients with monogenic disorders with single base variations were analyzed by Sanger sequencing.Results:In this study,the positive rate was 40.55％(28.22％for single base variants and 12.33％for copy number variants),including 12 cases of Duchenne/Becker muscular dystrophy,7 cases of Methylmalonic acidemia,48 cases of developmental delay spectrum disease,and 28 cases of epilepsy.Conclusion:WES can provide an effective molecular diagnostic basis for patients with genetically specific or nonspecific abnormal disease manifestations.Exon-predicted copy number variant(CNV)analysis of WES results can significantly improve the positive rate.
关键词
遗传病/全外显子组测序/河南地区/检出率Key words
genetic diseases/whole-exome sequencing/Henan province/positive rate引用本文复制引用
出版年
2024
NETL
NSTL
万方数据