广西医学Issue(5)：589-591,3.DOI:10.11675/j.issn.0253-4304.2015.05.02
广西重型β地中海贫血HBS1L-MYB基因多态性与胎儿血红蛋白的相关性研究
Correlation between HBS1L-MYB polymorphism and fetal hemoglobin in beta-thalassemia major in Guangxi
摘要
Abstract
Objective To study the correlation between single nucleotide polymorphism of HBS1L-MYB genes ( rs35959442, rs4895441,rs9399137) and fetal hemoglobin(HbF) in patients with β-thalassemia major.Methods Single nucleotide polymorphisms of HBS1L-MYB genes ( rs35959442, rs4895441, rs9399137 ) were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RELP) and DNA sequencing among 64 β-thalassemia major patients(case group) and 64 normal individuals(control group).Their association with HbF level was analyzed.Results The G allele frequencies of rs4895441 and rs35959442 loci of HBS1L-MYB gene in the case group were significantly higher than those in the control group(P<0.05).There was no significant difference in the allele frequency or genotype distribution of rs9399137 locus between two groups(P>0.05).rs4895441 and rs35959442 loci positively correlated with HbF level (P<0.0167),while rs9399137 locus did not correlate with HbF level(P>0.0167).Conclusion HBS1L-MYB polymorphism correlates with HbF level in patients withβ-thalassemia major in Guangxi.The rs4895441 and rs35959442 mutations might contribute to increasing the HbF level.关键词
重型β地中海贫血/胎儿血红蛋白/单核苷酸多态性/HBS1L-MYB基因Key words
Beta-thalassaemia major/Fetal hemoglobin/Single nucleotide polymorphism/HBS1L-MYB gene分类
医药卫生引用本文复制引用
于春蓝,刘容容,赖永榕..广西重型β地中海贫血HBS1L-MYB基因多态性与胎儿血红蛋白的相关性研究[J].广西医学,2015,(5):589-591,3.基金项目
国家自然科学基金（81260090）；广西自然科学基金 （）
