节点文献
TBX21基因多态性与类风湿关节炎相关性的研究
Study on the Association Between the Gene Polymorphisms of TBX21 and Rheumatoid Arthritis
【作者】 毛吉扬；
【导师】 张尔亮；
【作者基本信息】 四川师范大学 ， 生物化学与分子生物学， 2010， 硕士
【摘要】 目的:研究转录因子TBX21基因在rs4794067, rs2240017 ,rs17250932, rs2074190和rs12721470位点的单核苷酸多态性( SNPs),探讨其与中国汉族人群类风湿性关节炎(RA)易感性之间的关系。方法:采用单碱基延伸法( SBE)检测288例RA患者和288名正常健康者TBX21基因的5个SNPs:rs4794067, rs2240017 ,rs17250932, rs2074190和rs12721470的基因型。结果:5个SNP位点的基因型均符合Hardy-Weinberg平衡(P>0.05)。rs12721470位点的基因型频率和等位基因频率在RA组和对照组间的差别具有统计学意义。rs4794067位点的基因型频率在RA组和对照组间无统计学差异,而等位基因频率在RA组和对照组间的差异则具有统计学意义((P<0.05)。rs17250932,rs2240017和rs12721470基因型及等位基因频率在RA组和对照组间无统计学意义(P>0.05)。结论:TBX21基因单核酸多态性rs12721470与中国汉人群类风湿关节炎是显著相关联的。
【Abstract】 Objective :To investigate the relationship between the single nucleotide polymorphisms ( SNPs) of TBX21 gene with rheumatoid arthritis (RA) in Chinese Han population.Methods : The SNPs of TBX21 gene ( rs4794067, rs2240017 ,rs17250932, rs2074190 and rs12721470) in 288 patients with RA and 288 healthy controls were determined, and relationship between TBX21gene SNPs and patients with RA SNPs genotyping were performed by a method of Single Base Extension ( SBE).Results : All the genotype frequencies of these SNPs were in Hardy- Weinberg equilibrium (HWE) (P>0.05). The genotype and allele frequencies of the rs12721470 polymorphism in the RA patients were significantly different from those of the healthy control group. The genotype frequencies of rs4794067 were not significant between patients with RA and healthy controls , but allele frequencies of the rs12721470 polymorphism were significantly(P<0.05). There were not significant differences in genotypes and allele frequency distribution of rs17250932,rs2240017and rs12721470 between patients with RA and healthy controls ( P > 0. 05).Conclusion :TBX21 polymorphisms analyzed in the present study are the susceptible genes for rheumatoid arthritis (RA) in Chinese Han ethnicity.