作　　者： ; ; ; ; ; ;

机构地区： 海南医学院

出　　处： 《海南医学院学报》 2007年第1期1-4,共4页

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。 Objective： To investigate the incidences, the allelic frequencies and the genotypes frequencies of three α-thalassemia deletion types（-SEA, -α^3.7 ,-α^4.2）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（-α^3.7） and left deletion（-α^4.2） ,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 （-α^3.7/αα） cases and 8 （-α^4.2/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 （-α^3.7/αα） cases, 6 （-α^3.7/-α^3.7） cases, 18 （-α^3.7/-α^4.2） cases, 38 （-α^4.2/αα） cases and 10 （-α^4.2//-α^4.2） cases. Conclusion： There is a high incidence of α-thalassemia in Han and Li nationalities of Hainan province.

关 键 词： 贫血 珠蛋白生成障碍性 基因频率 基因型 聚合酶链反应 海南省

领　　域： [生物学]