【摘要】 为探讨蛋白酪氨酸磷酸酶非受体型22(protein tyrosine phosphatase nonreceptor 22,PTPN22)基因1123G>C(rs2488457)单核苷酸多态性(SNP)与系统性红斑狼疮(systemic lupus erythematosus,SLE)的相关性。采用Taqman-MGB探针建立了1123G>C位点的实时荧光定量PCR的分型方法,对104例SLE患者、105例其他风湿病患者、101例健康体检者进行分型。同时采用间接免疫荧光法检测抗核抗体(ANA)、抗双链DNA(dsDNA)抗体。结果显示SLE组PTPN22基因SNP CC基因型与其他风湿病组及健康对照组有显著性差异(P<0.05),SLE组PTPN22基因CC基因型(基因频率:0.221)明显高于其他风湿病组(包括AS、SS、PBC组)、健康对照组(基因频率:0.030),其他风湿病组PTPN22基因SNPCC基因型与健康对照组无统计学意义(P>0.05),SLE组C等位基因频率为0.447明显高于其他风湿病组和健康对照组。此结果符合Hardy-Weinberg平衡定律。SLE组PTPN22各基因型ANA、抗ds DNA抗体差异无统计学意义(P>0.05)。因而PTPN22基因SNP与SLE患者有一定的相关性,由于SLE患者地区和种族差异,PTPN22基因变异位点可能不同。更多还原

【Abstract】 To investigate the relationship between the protein tyrosine phosphatase 22(PTPN22) gene 1123G>C single nucleotide polymorphism(SNP) and systemic lupus erythematosus(SLE),the real time fluorescent quantitation polymerase chain reaction was used to detect the 1123G>C polymorphism of the PTPN22 gene from SLE patients,others rheumatic diseases and the normal controls.Antinuclear antibody(ANA) and anti-dsDNA were also detected.The result showed that there was a significant difference among SLE patients,others rheumatic diseases and the normal controls(P<0.05).The CC genotype frequencies of SLE patients and the normal controls were 0.221 and 0.030 respectively;however there was no significant difference between others rheumatic diseases and the normal controls(P>0.05).The results were consistent with law of Hardy-Weinberg equilibrium.There was no significant correlation between the positive ratio of ANA,anti-dsDNA,and the genotypes of PTPN22 gene(P>0.05).It is evident that the polymorphism of PTPN22 gene is associated with SLE patients,and the genotypes of PTPN22 gene have no effect on the expression of ANA and anti-dsDNA.更多还原