高通量测序技术在地中海贫血防控中应用的效果评价  

Effect of high-throughput sequencing for the prevention and control of thalassemia

作　　者：陈扬[1] 张淑芳[1] 王婵 陈仕平 冯女 刘海芳[1] 唐小燕 王洁[3] Chen Yang;Zhang Shufang;Wang Chan;Chen Shiping;Feng Nyu;Liu Haifang;Tang Xiaoyan;Wang Jie(Central Laboratory,Haikou Hospital Affiliated to Xiangya Medical College,Central South University,Haikou,Hainan 570208,China;Neonatal Screening Center,Hainan Maternal and Child Health Care Hospital,Haikou,Hainan 570206,China;BGI Clinical Laboratory-Shenzhen,Shenzhen,Guangdong 518083,China)

机构地区：[1]中南大学湘雅医学院附属海口医院中心实验室,海口570208 [2]深圳华大临床检验中心,518083 [3]海南省妇幼保健院新生儿疾病筛查中心,海口570206

出　　处：《中华医学遗传学杂志》2020年第6期645-649,共5页Chinese Journal of Medical Genetics

基　　金：海南省医药卫生科研项目(18A200055);海南省重大科技项目(ZDKJ2017007);海口市人民医院院内课题(2017-YNK-20)。

摘　　要：目的评估高通量测序技术在地中海贫血(简称地贫)防控中的应用价值。方法应用高通量测序技术对3083例临床血常规初筛疑似地贫的样本进行基因测序,对检测为地贫罕见基因型和异常血红蛋白的样本回顾性分析血常规结果。结果3083例外周血中,检出地贫基因阳性1089例,地贫阳性检出率为35.32%(1089/3083),其中α-地贫26.01%(802/3083),β-地贫6.71%(207/3083),α-复合β-地贫2.59%(80/3083),检出罕见α-地贫基因型HBA2 c.123delG、HBA1 c.354_355insATC和Fusion gene及罕见β地贫基因型HBB c.-100G>A和HBB c.316-90A>G。另检出异常血红蛋白19例,主要包括Hb Hamilton、Hb Hekinan II、Hb Shizuoka、Hb Owari、Hb New York、Hb J-Bangkok和Hb Port Phillip等。结论高通量测序对于提高地贫的防控效果和建立健全地贫筛查防控体系具有积极的影响。Objective To assess the value of next generation sequencing(NGS)for the prevention and control of thalassemia.Methods NGS was used to sequence 3083 clinical blood samples suspected for thalassemia during initial screening.Retrospective analysis was conducted on blood samples detected with rare genotypes of thalassemia and abnormal hemoglobin.Results NGS analysis of the 3083 samples has found 1089 subjects with thalassemia genotypes(α-thelassemia genotype:26.01%,β-thalassemia genotype:6.71%,andα-compoundβ-genotype:2.59%),which yielded a positive detection rate of 35.32%.Rareα-thalassemia genotypes including HBA2 c.123delG,HBA1 c.354_355insATC and Fusion gene,and rareβ-thalassemia genotypes including HBB c.-100G>A and HBB c.316-90A>G,were discovered.In addition,19 patients were found to have abnormal hemoglobin,mainly including Hb Hamilton,Hb HekinanⅡ,Hb Shizuoka,Hb Owari,Hb New York,Hb J-Bangkok and Hb Port Phillip.Conclusion NGS can play a crucial role for improving of the prevention and control of thalassemia and formulating a screening system with better efficacy.

关 键 词：地中海贫血 基因变异 高通量测序 基因检测 

分 类 号：R440[医药卫生—诊断学] R556.61[医药卫生—临床医学]