摘要
目的探讨汉族人群抗原处理相关转运体（ＴＡＰ）基因多态性及与类风湿关节炎（ＲＡ）的相关性。方法用ＰＣＲＡＲＭＳ，ＲＦＬＰ，ＳＳＯＰ检测ＲＡ患者７８例及健康献血者７３名ＴＡＰ１３３３位和６３７位，ＴＡＰ２３７９，５６５，６５１，６８７位氨基酸等位基因多态性。结果汉族健康人ＴＡＰ１３３３位的６３７位等位基因基因型分别以Ｉ和Ｄ为主，表现型主要为Ⅱ和ＤＤ，有１Ａ１Ｄ４个亚型，以１Ａ和１Ｂ为主，有６种表型，ＴＡＰ２３７９，５６５，６５１，６８７位基因型分别以ＶＡＲＴＳ为主，表型以ＶＶＡＴＲＲＡＴＳＳ为主，有２Ａ２Ｇ７个亚型，以２Ａ和２Ｂ为主，有９种表型。ＲＡ患者ＴＡＰ２５６５ＴＴ和６６５ＡＡ及ＴＡＰ２Ｄ频率升高，并可使ＤＲ４阳性者患ＲＡ的相对危险性增加８２６倍。２Ｄ及ＤＲ４阳性ＲＡ患者的ＲＦ滴度显著高于ＴＡＰ２Ｄ阴性而ＤＲ４阳性的ＲＡ患者及前者的病程较长。结论汉族人群ＴＡＰ基因多态性有其基本特点。ＴＡＰ２Ｄ可使ＤＲ４阳性者患ＲＡ的相对危险性增加并可能影响其临床表现。
Objective To investigate the association between transporter associated with antigen processing(TAP)gene polymorphisms and rheumatoid arthritis(RA)in Han nationality. Methods The frequencies of the alleles at position 333 and 637 for TAP1 and 379,565,651,665and 687 for TAP2 in 73 healthy controls and 78 RA patients were defined by PCRARMS,RFLP andSSOP. Results The genotypes I and D are overpresented at position 333 and 637 for TAP1 and V,A,R,T and S at 379,565,651,665 and 687 for TAP2,whereas the and DD are overpresented for TAP1 and VV,AR,RR,AT,SS for TAP2 in the controls.There are four kinds of haplotypes (1A1D),and main genotypes 1A and 1B are distributed for TAP1,Whereas,seven kinds of haplotypes (2A2G) exist in TAP2,and main genotypes 2A and 2B phenotypes are distributed for TAP2.The frequencies of phenotypes 565TT,665AA and TAP2D are significantly increased in RA patients and TAP2D coupling with DR4 could have a higher relative risk to suffer from RA than positive DR4 individuals (RR=826)and may have a higher rheumatoid factor (RF) titer and a longer disease duration than patients with negative TAP2D. Conclusion TAP polymorphisms in Han nationality have its own characteristics.TAP2D could make DR4 individuals more susceptible to RA and change clinical manifestations.
出处
《中华风湿病学杂志》
CAS
CSCD
1999年第2期71-74,共4页
Chinese Journal of Rheumatology
关键词
抗原
相关转运体
类风湿性关节炎
基因多态性
Transporter associated with antigen processingPolymorphismArthritis
rheumatoid
