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目的探讨蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因多态性(rs33996649/G788A/R263Q和rs1310182/A10281188G)与广东地区汉族人群类风湿性关节炎(RA)易感性间的关系。方法选取广东地区人群中218例RA患者以及229例健康对照者进行病例对照研究,采用PCR-RFLP技术检测PTPN22G788A和A10281188G两个多态性位点的基因型,计算比较两组基因型和等位基因频率。结果 RA患者和健康对照者PTPN22在788位点均为G等位基因,未检测到A等位基因,没有发现单核苷酸多态性的存在;10281188位点G等位基因在病例组和对照组中的频率分别为12.4%和13.3%(P>0.05)。结论广东地区人群PTPN22788位点不存在多态性,G788A和A10281188G基因位点与广东汉族人群RA的发病无相关性。
Objective To investigate the relationship between polymorphisms of PTPN22 (rs33996649 / G788A / R263Q and rs1310182 / A10281188G) and susceptibility to rheumatoid arthritis (RA) in Han nationality in Guangdong province. Methods A case-control study was conducted in 218 RA patients and 229 healthy controls in Guangdong population. Genotypes of PTPN22G788A and A10281188G polymorphisms were detected by PCR-RFLP. The genotypes and alleles of two groups were compared Gene frequency. Results PTPN22 in RA patients and healthy controls were G alleles at 788 loci, no A allele was detected and no single nucleotide polymorphism was found. G allele at locus 10281188 was significantly higher in case group and The frequency in the control group was 12.4% and 13.3%, respectively (P> 0.05). Conclusion There is no polymorphism in the locus of PTPN22788 in Guangdong population. There is no correlation between the loci of G788A and A10281188G and the incidence of RA in Guangdong Han population.