西南国防医药2018，Vol.28Issue(5)：404-406,3.DOI:10.3969/j.issn.1004-0188.2018.05.002
NGS与常规筛查对地中海贫血基因筛查的结果比较
Results of genetic screening of thalassemia by NGS and routine screening
摘要
Abstract
Objective To compare the results of genetic screening of thalassemia by next-generation sequencing (NGS) and routine screening.Methods A total of 405 Guangdong couples who had received pre-pregnancy or prenatal examination were selected as study subjects and divided into a study group and a control group.The thalassemia genes in the study group were screened by NGS method and that in the control group by routine screening method.The detection rate,coincidence rate and economic benefit between the two groups were compared.Results A total of 249 genes were found positive according to the routine detection,NGS and dideoxy chain termination (Sanger sequencing) or real-time quantitative gene amplification fluorescence detection system (Q-PCR) detection,including α-thalassemia gene in 168 cases (67.47％),β-thalassemia gene in 72 cases(28.92％) and α,β-thalassemia gene in nine cases (3.61％).The genes were found positive in 221 cases (88.76％) in the control group and 247 cases (99.20％) in the study group.The detection results of 23 kinds of routine thalassemia genes in the study group were basically the same as those in the control group,but seven types of gene mutation in 25 cases in the study group were found though not found in the control group,and this was completely consistent with Sanger or Q-PCR verification results.The gene detection in the study group consumed longer time than that in the control group;and the cost in the study group was significantly higher than that in the control group (P ＜ 0.05).Conclusion NGS can improve the detection rate of thalassemia genes,has wide scope of screening and high efficiency and helps the clinical screening of thalassemia genes.关键词
高通量测序/跨越断裂点PCR法/地中海贫血/基因/筛查Key words
NGS/Q-PCR/thalassemia/gene/screening分类
医药卫生引用本文复制引用
何淑贞,蒲育栋,苏焕厚,曹金如,莫丽芳..NGS与常规筛查对地中海贫血基因筛查的结果比较[J].西南国防医药,2018,28(5):404-406,3.基金项目
东莞市社会科技发展重点项目(2014108101010) （2014108101010）
