【作者】 沈冲；

【导师】 叶冬青；

【作者基本信息】 安徽医科大学 ， 流行病与卫生统计学， 2001， 硕士

【摘要】 目的 探讨皖籍汉族人抗原肽处理相关运载体（TAP）等位基因多态性及与类风湿关节炎（RA）的相关性。方法 采用低渗溶血法提取人血白细胞中的DNA，运用多聚酶链反应-限制性片断长度多态性（PCR-RFLP）方法（其中三个位点的引物采用了错配法）和聚丙烯酰胺凝胶电泳方法，对50例RA患者和50例健康对照血样进行TAP等位基因多态性分析，寻找RA易感和抗性相关基因型。结果 TAP2 665-A和565-A在RA组显著低于对照组（P=0.000）。RA组TAP2以379-V、687-S、665-T及565-T为主，四种等位基因频率均显著高于对照组（P＜0.05）；RA组379-II（8％）、637-GG（8％）显著低于对照组（P＜0.05）。TAP2-665、565在RA组都以纯合子TT（62％、70％）为主，显著高于对照组（P=0.000）；而对照组均以AA（80％、78％）为主，且显著高于RA组（P=0.000）；RA组TAP2D、TAP2E、TAP2I和TAP2K均显著高于对照组（P＜0.05）；且除TAP2K外，其它相应的Pc均小于0.05，表明TAP2D、TAP2E和TAP2I可能是RA的危险因素。等位基因单倍型TAP2B、TAP2J和TAP2L在RA组的频率均显著低于对照组（P＜0.05）对RA可能具有保护作用，且后二者相应的Pc值均小于0.05。一结论 皖籍汉族人TAP等位基因除具有与其他地方人群共同的多态性特点外，还具有有别于其他地区人种的自身特征。皖籍汉族人存在KA的易感和抗性TAP等位基因。更多还原

【Abstract】 Objective To investigate the relation between the polymorphism of transporter associated with antigen processing (TAP) genes and rheumatoid arthritis (RA) in Anhui Hansman.Methods Genomic DNA was extracted by low permeating hemolysis from leucocyte. The human transporters associated with antigen processing ( TAP ) alleles polymorphism of 50 RA patients and 50 healthy individuals, was defined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) amplification and polyacrylamidedel electro -phoresis. Three sites were amplificated by mismatch amplification mutation assay.Results TAP2 alleles frequencies of 665-A and 565-A in RA group were significantly lower than control group (P~0.00O) and that of 379-V,687-S,665-T,565-T were higher in RA than control group (P<0.05) . As for TAP alleles phenotype frequecencies,the homozygosity for 379 which is 11(8%) and 637-GG (8%) ,665AA(24%)~ 565-AA(16%) are associated with resistance to RA(P<O.05 or P=0.000),while TAP2-665-TT (62%) ,565-TT(70%) seems to confer susceptibility for RA (P0.000) .TAP alleles haptotype frequencies of TAP2D, TAP2E,TAP2I and TAP2K in RA patients are notably higher than healthy individuals (P<0.05) , and the corresponsive corrected Pc(Pc<0.05,except TAP2K) showed which could have a higher OR to suffer from RA than contrast.On the contrary, TAP2B,TAP2J and TAP2L seems to be risk factors for RA, The frequencies of TAP2B,TAP2J and TAP2L in RA groupare significantly lower than control group (P<0.05) , and also, the Pc for TAP2J and TAP2L are lower than 0.05.Conclusions TAP alleles polymorphism in Anhui Han people shows its own characteristics different from some other race and there is some TAP alleles susceptible or resistant to RA in Anhui Han people.更多还原