摘要
目的探讨HBBP1(rs2071348)、HBG2(rs7482144)和HBS1L-MYB(rs9399137)基因多态位点在云南德宏地区HbE/β-地贫患者和正常人群中的分布特点,分析这三个SNP与地贫患者Hb F表达水平的关联性。方法共获取样本全基因组DNA样本420例,其中正常对照组样本192例,HbE/β-地贫患者41例,β-地中海贫血组98例,HbE组89例。采用ARMSPCR法对rs9399137进行基因分型,采用PCR-RFLP法对rs2071348和rs7482144进行基因分型。结果 rs2071348、rs9399137和rs7482144在云南德宏地区正常人群中最小等位基因频率(MAF)分别为0.14、0.15和0.06,具有多态性;HbE组和HbE/β-地贫组的Hb F水平高于正常对照组(P<0.05),这两组在rs2071348和rs7482144位点的MAF均高于正常对照组,差异具有统计学意义(P<0.05);三个位点不同基因型在HbE组、HbE/β-地贫组和β-地贫组中对应的Hb F水平差异无统计学意义(P>0.05)。结论 HBBP1(rs2071348)C等位基因和HBG2(rs7482144)T等位基因与HbE(G>A)突变存在关联性,并且与HbE和HbE/β-地贫组Hb F水平增高相关。但在不同病例组内三个位点多态性对应的Hb F水平无显著差异。
Objective：To study the distribution characteristics of HBBP1（rs2071348）、HBG2（rs7482144）and HBS1 LMYB（rs9399137）gene polymorphisms in HbE/β-thalassemia patients and normal people in Dehong,Yunnan,and to explore the association between polymorphisms of the three SNPs and Hb F level.Method：A total of 420 genomic DNA samples were obtained,including 192 normal controls,41 patients with HbE/beta-thalassemia,98 patients with β-thalassemia and 89 patients with HbE.HBBP1 and HBG2 were genotyped using PCR-RFLP,while HBS1L-MYB was genotyped using ARMS-PCR.Results：The minor allele frequency（MAF）of rs2071348,rs9399137 and rs7482144 are 0.14,0.15 and 0.06 in the normal control group,indecating they are all polymorphic.The Hb F level,MAFs of rs2071348 and rs7482144 of HbE group and HbE/β-thalassemia group are higher than that of normal control group（P〈0.05）.However,no significant difference have been found on both genotype frequencies of the three SNP loci and the Hb F level within the HbE,HbE/β-thalassemia and β-thalassemia groups（P〈0.05）.Conclusion：The rs2071348（HBBP1）C allele and rs7482144（HBG2）T allele are associated with HbE（GA）mutation and positively correlated with Hb F levels.There were no significant correlations between the three loci polymorphisms and Hb F levels in different patient groups.
出处
《中国优生与遗传杂志》
2018年第1期21-25,33,共6页
Chinese Journal of Birth Health & Heredity
基金
云南省应用基础研究计划重点项目
编号(2016FA048)
