轻型β-珠蛋白生成障碍性贫血患者β-珠蛋白基因单核苷酸多态性分析

目的对临床诊断为轻型β-珠蛋白生成障碍性贫血患者进行β-珠蛋白基因单核苷酸多态性分析.方法用PCR法对β-珠蛋白基因进行扩增,扩增产物经纯化后测序,确定其单核苷酸多态性.结果β-珠蛋白基因分析片段中共发现3个位点存在单核苷酸多态性,分别是外显子1第59位的T/C多态性、内含子2第-16位的G/C多态性及内含子2第-74位的T/G多态性.结论同国外报道的正常人群相比,轻型β-珠蛋白生成障碍性贫血患者的β-珠蛋白基因单核苷酸多态性位点显著减少,各位点的碱基频率也有不同.

Analysis for single nucleotide polymorphisms of beta-globin gene in beta-thalassaemia carriers

Objective To investigate the single nucleotide polymorphisms(SNP) of beta-globin gene in beta-thalassaemia carrier.Methods The target fragment of beta-globin gene in beta-thalassaemia carriers was first amplified using PCR,the single nucleotide polymorphisms were determined by the automatic DNA sequencing.Results Three single nucleotide polymorphisms were found in the amplified fragment of beta-globin gene from beta-thalassaemia carriers.They were respectively the T/C polymorphism at nucleotide 59 in exon 1,the G/C polymorphism at nucleotide -16 in intron 2,and the T/G polymorphism at nucleotide-74 in intron 2.Conclusion There are some differences in the single nucleotide polymorphisms of the beta-globin gene between beta-thalassaemia carriers and normal subjects.The number of single nucleotide polymorphisms among beta-thalassaemia carriers is lesser.The frequency of bases is also different between beta-thalassaemia carriers and normal subjects.