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佛山地区地中海贫血基因型的调查研究 被引量:7

Investigation of Thalassemia Genotypes in Foshan District
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摘要 目的探讨佛山地区地中海贫血基因型的分布特征。方法对来佛山市妇幼保健院就诊、体检和婚前检查的人群进行血细胞分析,MCV<82 fl者抽取静脉血2 ml(EDTA抗凝),用GAP-PCR法进行α地贫基因分析,同时用反向点杂交法进行β地贫基因分析。结果血细胞分析平均红细胞体积(MCV)<82 fl者5063例,基因诊断α地贫1382例(27.30%),β地贫1395例(27.55%),αβ复合型地贫15例(0.30%)。α地贫基因型分布前3位分别是:--SEA/αα(76.7%),αα/-α3.7(12.37%)和αα/-α4.2(4.27%)。β地贫共检出12种突变基因,27种基因型,居前5位依次是:CD41-42(41.43%),IVS-2-654(17.63%),TATbox-28(13.91%),CD17(13.33%)和CD71-72(3.8%)。αβ复合型地贫共检出9种基因型,以CD41-42、IVS-2-654合并--SEA/αα或αα/-α3.7最为常见。结论佛山是地贫高发区,基因背景多样复杂,对于MCV<82 fl人群有必要进行地贫基因诊断,并建立地贫基因网络档案库。 Objective To explore the distribution characteristics of thalassemia genotypes in Foshan district.Methods Gap-PCR was used to test α-thalassaemia genotype and reverse hybridization assay was used to test β-thalassaemia genotype with two milliliter anticoagulation venous blood,which was extracted from examiners with lower mean corpuscular volume,according to complete blood analysis results.Results 1382 α-thalassaemia patients,1395 β-thalassaemia patients and 15 composite genotype thalassaemia patients were detected among 5063 examiners with lower mean corpuscular volume,meanwhile,the prevalence were 27.30%,27.55% and 0.30%,respectively.Three common genotype of α-thalassaemia were——SEA/αα(76.7%),αα/-α3.7(12.37%) and αα/-α4.2(4.27%),and five common genotype of β-thalassaemia were CD41-42(41.43%),IVS-2-654(17.63%),TATbox-28(13.91%),CDl7(13.33%) and CD71-72(3.8%).There were nine composited genotypes which were combined with α and β genotype,the most common composited genotypes were CD41-42 combined with——SEA/αα,IVS-2-654 combined with——SEA/αα,CD41-42 combined with αα/-α3.7,and IVS-2-654 combined with αα/-α3.7,respectively.Conclusion As the high incidence and the genetic diversity of thalassemia in Foshan district,to test genotype and set up thalassemia genotype network archive were necessary for population with lower mean corpuscular volume.
出处 《中华全科医学》 2013年第4期593-593,620,共2页 Chinese Journal of General Practice
基金 广东省佛山市科技局科技攻关课题(200808048)
关键词 地中海贫血 基因分析 平均红细胞体积 Thalassemia Gene analysis Mean corpuscular volume
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