【摘要】 目的:研究海南省汉、黎族人群中东南亚型缺失(--SEA)、右侧缺失(-α3.7)和左侧缺失(-α4.2)3种α-地中海贫血缺失突变的携带率、基因频率及基因型的分布特点。方法:应用聚合酶链反应(PCR)技术直接筛查海南省汉、黎族人群中的东南亚型缺失(--SEA)、右侧缺失(-α3.7)和左侧缺失(-α4.2)3种α-地中海贫血缺失突变。结果:在197例海南汉族人中检出25例α-地中海贫血携带者,携带率为12.69%,3种α-地中海贫血缺失突变的基因频率为0.0635,其中--SEA、-α3.7和-α4.2的基因频率分别为0.0127,0.0305,0.0203,共发现--SEA/αα、-α3.7/αα和-α4.2/αα3种基因型,其中--SEA/αα5例,-α3.7/αα12例,-α4.2/αα8例;在201例海南黎族人中检出114例α-地中海贫血携带者,携带率为56.72%,3种α-地中海贫血缺失突变的基因频率为0.3607,其中--SEA、-α3.7和--α4.2的基因频率分别为0.0075,0.1716,0.1891,共发现--SEA/αα、-α3.7/αα、-α3.7/-α3.7、-α3.7/-α4.2、-α4.2/αα、和-α4.2/-α4.26种基因型,其中--SEA/αα3例,-α3.7/αα39例,-α3.7/-α3.76例,-α3.7/-α4.218例,-α4.2/αα38例,-α4.2/-α4.210例。结论:海南省汉、黎族人群是α-地中海贫血的高发群体。更多还原

【Abstract】 Objective: To investigate the incidences,the allelic frequencies and the genotypes frequencies of three α-thalassemia deletion types(——SEA、-α3.7、-α4.2)and their distributions in Han and Li nationalities of Hainan province.Methods: Three α-thalassemia deletion types,i.e.Southeast Asia deletion(——SEA),right deletion(-α3.7) and left deletion(-α4.2),were screened in Han and Li nationalities of Hainan by polymerase chain reaction(PCR) technique.Results:25 carriers were detected in 197 Han individuals,and the incidence of carriers was 12.69%.The gene frequency of these three deletion types was 0.0127,0.0305 and 0.0203 respectively,totally 0.0635 in Han nationality of Hainan.Three genotypes of 5(——SEA/αα) cases,12(-α3.7/αα) cases and 8(α4.2/αα) cases were detected.On the contrast,114 carriers were detected from 201 individuals in Li nationality,and the incidence of carriers was 56.72%.The gene frequency of these three deletion types was 0.0075,0.1716 and 0.1891 respectively,totally 0.3607 in Li nationality.Six genotypes were detected of 3(——SEA/αα) cases,39(-α3.7/αα) cases,6(-α3.7/-α3.7) cases,18(-α3.7/-α4.2) cases,38(-α4.2/αα) cases and 10(α4.2/-α4.2) cases.Conclusion: There is a high incidence of α-thalassemia in Han and Li nationalities of Hainan province.更多还原