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

目的初步对三亚地区人群珠蛋白生成障碍性贫血(简称地贫)进行基因分型以了解该地区地贫患病率及其高发的基因类型。方法收集1 164例外周血,用跨跃断裂点聚合酶链反应及反向斑点膜条杂交技术进行地贫基因分型检测。结果 1 164例外周血中。地贫344例(29.55%),β地贫92例(7.90%),αβ复合型地贫10例(0.86%)。地贫阳性率为38.3%。α地贫前4位的基因型及基因构成比分别是:-α^(3.7)/αα(128例)37.20%、-α^(4.2)/αα(82例)23.84%、——^(SEA)/αα(50例)14.53%、-α^(3.7)/-α^(4.2)(38例)11.05%;β地贫前4位的突变位点名称分别是:CD41-42(66例)、IVS-Ⅱ-654(12例)、-28(6例)、-29(4例)。结论三亚地区地贫以α地贫为主,具有区域性的特点,且发生率较高,加强对育龄人群的地贫全面筛查及基因诊断。

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 1 164 peripheral blood samples were collected to detect the thalassemia genotyping by using the leaping breakpoint PCR and reverse dot blot membrane strip hybridization technique. Results Among 1 164 peripheral blood samples,344 cases were α- thalassemia,92 cases were 13 thalassemia and 10 cases were α,β mixed thalassemia. The positive rate of thalassemia was 38.3%. The top 4 geno types in α-thalassemia and genetic constituent ratio were- α^3.1/αα （128 cases, 37. 20%）,- α^4.2/cm （82 cases, 23.84%） --SEA/αα（50 cases,14. 53%） and -α^3.7 （38 cases, 11.05%）;the top 4 mutation site names in β- thalassemiawereCD41 42（66 cases）,IVS-Ⅱ 654（12 cases）,-28（6 cases） and -29（4 cases） respectively. Conclusion Thalassemia in Sanya area is mainly α-thalassemia with regional characteristics and higher incidence. Therefore the comprehensive thalassemia screening and genetic diagnosis in the childbearing population should be strengthened.