检验医学与临床Issue(1)：46-47,50,3.DOI:10.3969/j.issn.1672-9455.2016.01.019
海南省三亚地区珠蛋白生成障碍性贫血的基因分型研究∗
Study on genotyping of thalassemia in Sanya area of Hainan Province
摘要
Abstract
Objective To conduct the genotyping of thalassemia in Sanya area for understanding the prevalence of thalassemia and its high-incidence genotypes in this area.Methods 1 1 64 peripheral blood samples were collected to detect the thalassemia genotyping by using the leaping breakpoint PCR and reverse dot blot membrane strip hy-bridization technique.Results Among 1 1 64 peripheral blood samples,344 cases wereα-thalassemia,92 cases wereβ-thalassemia and 10 cases were α,βmixed thalassemia.The positive rate of thalassemia was 38.3%.The top 4 geno-types in α-thalassemia and genetic constituent ratio were -α3 .7/αα (128 cases,37.20%),-α4.2/αα (82 cases, 23.84%),--SEA/αα(50 cases,14.53%)and -α3 .7/-α4.2 (38 cases,1 1.05%);the top 4 mutation site names in β-thalassemia were CD41-42(66 cases),IVS-Ⅱ-654(12 cases),-28(6 cases)and -29(4 cases)respectively.Conclu-sion Thalassemia in Sanya area is mainlyα-thalassemia with regional characteristics and higher incidence.Therefore the comprehensive thalassemia screening and genetic diagnosis in the childbearing population should be strengthened.关键词
α珠蛋白生成障碍性贫血/β珠蛋白生成障碍性贫血/基因检测Key words
α-thalassemia/β-thalassemia/genetic testing引用本文复制引用
利振坤,李强,麦珍..海南省三亚地区珠蛋白生成障碍性贫血的基因分型研究∗[J].检验医学与临床,2016,(1):46-47,50,3.基金项目
海南省三亚市医疗卫生科技创新科研课题(YW1327)。 （YW1327）
