摘要
目的评估高通量测序技术在地中海贫血(简称地贫)检测中的运用价值,对黎族地区实行更精准的地贫检测,为地贫防控以及建立地贫数据库提供新的数据支持。方法海南省保亭黎族苗族自治县随机选取1842名中学生作为研究对象,其中黎族1249人,汉族454人,其他少数民族139人。采集外周血样,采用gap-PCR结合高通量测序法进行地贫基因检测。结果共检测出22种α地贫基因型、5种β地贫基因型以及21种α复合β地贫基因型。黎族地贫携带率为78.14%,汉族为24.01%,其他少数民族为28.06%。此外高通量测序发现22例融合基因型、8例异常血红蛋白和10例罕见变异基因型。结论高通量测序技术在黎族地区地贫检测中具有检测范围广的优点,同时对发现并鉴定珠蛋白融合基因、异常血红蛋白和罕见基因变异具有重要作用。
Objective To assess the value of high-throughput sequencing for the detection of thalassemia-associated variants in ethnic Li minority areas of Hainan,China.Methods In Baoting Li and Miao Autonomous County of Hainan Province,1842 middle school students were randomly selected as the subjects,which included 1249 ethnic Lis,454 ethnic Hans,and 139 individuals from other ethnic minorities.With DNA extracted from peripheral blood samples,gap-PCR combined with high-throughput sequencing were carried out to detect potential variants of the globin genes.Results In total 22α-thalassemia genotypes,5β-thalassemia genotypes,and 21α-compositeβ-thalassemia genotypes were detected.The carrier rates for ethnic Li,ethnic Han and other ethnic minorities were 78.14%,24.01%,and 28.06%,respectively.In addition,22 fusion genes,8 variants leading to abnormal hemoglobin,and 10 rare mutations were identified.Conclusion High-throughput sequencing can detect a wide range of genetic variants associated with thalassemia in the ethnic Li minority areas and has played an important role for the identification of fusion genes,variants underlying hemoglobin anomalies and rare mutations.
作者
胡俊杰
陈鑫苹
朱娟
徐卫华
李晓娟
符生苗
Hu Junjie;Chen Xinping;Zhu Juan;Xu Weihua;Li Xiaojuan;Fu Shengmiao(Central Laboratory,Hainan General Hospital,the Affiliated Hainan Hospital of Hainan Medical College,Hainan Provincial Key Laboratory for Cell and Molecular Genetic Translational Medicine,Haikou,Hainan 570311,China;Department of Pathology,Hainan General Hospital,Haikou,Hainan 570311,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2022年第11期1192-1199,共8页
Chinese Journal of Medical Genetics
基金
海南省科协青年科技英才学术创新计划(QCXM201921)。
关键词
黎族
高通量测序
融合基因
异常血红蛋白
基因变异
Ethnic Li Chinese
High-throughput sequencing
Fusion gene
Abnormal hemoglobin
Genetic variant
作者简介
通信作者:符生苗,Email:smfu2000@126.com。
