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维吾尔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的相关性 |
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闵伟琪 施桂英
中国图书分类号 R593.22
摘 要 目的：探讨新疆维吾尔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：采用PCR-ARMS，-RFLP，-SSOP检测RA患者39例及健康献血者41例TAP1-333和637位，TAP2-379、565、651、665、687等位氨基酸等位基因多态性。结果：健康维吾尔族人群TAP1-333位和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1A～1D 4个亚型，以1A和1B为主；TAP2-379、565、651、665、687等位基因型分别以V-A-R-T-Q 为主，表现型以VV-AT-RR-TT-QQ 为主，有2A～2H共8个亚型，以2A和2B为主。RA患者TAP2 379-I，565-T和687-S频率, 565-TT,687-SS及TAP1B频率显著升高，并且TAP1B可使 DR4 阳性者患RA的相对危险性增加5.33倍。结论：维吾尔族健康人群及RA患者TAP基因多态性有不同于其他民族人群的基本特点。 TAP1B可使 DR4阳性者患RA的相对危险性增加，并可能是维吾尔患者RA的易感基因。
关键词 抗原处理相关转运体 多态性 类风湿关节炎
The association between transport-associated antigen processing (TAP) gene polymorphisms and rheumatoid arthritis (RA) in Weiwuer nationality
MIN Wei-Qi
PLA No.466 Hospital ,Beijing 100089.
SHI Gui-Ying
PLA General Hospital, Beijing 100853
Abstract Objective：To investigate the association between transport-associated antigen processing (TAP) gene polymorphisms and rheumatoid arthritis (RA) in Weiwuer nationality of Xinjiang. Methods：The frequencies of the alleles at position 333,637 for TAP1 and 379,565,651,665,687 for TAP2 in 39 healthy controls and 41 RA patients of Weiwuer nationality were defined by PCR-ARMS, -RFLP,-SSOP. Results：The genotype I,D are over-presented at position 333, 637 for TAP1 and V, A, R, T, S at 379,565 ,651, 665 and 687 for TAP2 whereas the II , DD are over-presented for TAP1 and VV, AT,RR, AT ,SS for TAP2 in the controls. There are four kinds of haplotypes (1A- 1D), and main genotype 1A,1B are distributed for TAP1. Whereas, Eight kinds of haplotypes ( 2A-2H) exist in TAP2 and main genotype 2A, 2B phenotype are distributed for TAP2. The frequencies of phenotype 565-TT, 687-SS, genotype 379-I and TAP1B are significantly increased in RA patients and TAP1B coupling with DR4 could have a higher relative risk to suffer from RA than positive DR4 individuals (RR= 5.33). Conclusion:TAP polymorphisms in Weiwuer nationality [1] [2] [3] 下一页
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