系统性红斑狼疮患者血清中Tim-1蛋白水平及其基因多态性  

Serum level of Tim-1 protein and genetic variations in Tim-1 gene in patients with systemic lupus erythematosus

作　　者：陈杰[1] 胡娜[2] 苏斌涛[1] 崔天盆[2] 

机构地区：[1]武汉市第一医院检验科,武汉430022 [2]湖北中医药大学,武汉430000

出　　处：《中国免疫学杂志》2014年第1期114-116,120,共4页Chinese Journal of Immunology

基　　金：国家自然科学基金面上项目(No.81170035);湖北省自然科学基金项目资助(No.2010CDB08903)资助

摘　　要：目的:检测T细胞免疫球蛋白黏蛋白域蛋白-1(Tim-1)在系统性红斑狼疮患者和健康对照组血清中的浓度,比较不同基因型间Tim-1蛋白的浓度,及其基因第4外显子插入/缺失多态性,分析其与系统性红斑狼疮的关系。方法:采用ELISA方法测定Tim-1蛋白在血清中的浓度;PCR反应检测TIM-1的第4外显子插入与缺失多态性,计算基因型与等位基因的频率。结果:系统性红斑狼疮患者和健康对照组血清中Tim-1蛋白的浓度分别是:(263.083±276.953)和(58.527±92.424)pg/ml,两组之间的差异有统计学意义;SLE患者TIM-1的第4外显子缺失/缺失纯合子与缺失/插入杂合子的Tim-1蛋白的浓度分别为(307.360±284.079)和(191.750±256.708)pg/ml,两组之间无显著性差异。健康对照组TIM-1的第4外显子缺失/缺失纯合子与缺失/插入杂合子的Tim-1蛋白的浓度分别为(70.295±109.917)和(40.468±41.739)pg/ml,两组之间无显著性差异。对照组的TIM-1的第4外显子缺失/缺失纯合子,缺失/插入杂合子,插入/插入纯合子基因型频率分别是0.617,0.321,0.062;系统性红斑狼疮患者相应的基因型频率是0.652,0.326,0.022。两组之间无显著性差异。结论:Tim-1蛋白在系统性红斑狼疮患者血清中的浓度升高,与系统性红斑狼疮的正相关。但是第4外显子插入与缺失多态性与系统性红斑狼疮无相关性,该突变不改变Tim-1蛋白在血清中的水平。Objective：To detect the Tim-1 serum level, compare Tim-1 serum level in different genotype subjects and investi- gate the relationship between the exon 4 gene polymorphism of Tim-1 and systemic lupus erythematosus . Methods： Enzyme-Linked Immunosorbent Assay was used for quantification of serum Tim-1 protein level. Polymerase chain reaction was used to determine the ins/del polymorphism of the exon 4 of Tim-1 from systemic lupus erythematosus patients and the control group. Results： The serum Tim-1 protein level in SLE and healthy subjects were （263. 083 ± 276.953）pg/ml and （58. 527 ± 92. 424）pg/ml, respectively. The difference between two groups had statistical significance. The serum Tim-1 protein concentration in del/del and ins/del genotype patients were （307. 360 ± 284. 079） pg/ml and （ 191. 750 ± 256. 708 ） pg/ml, respectively. The serum Tim-1 protein concentration in del/del and ins/del genotype healthy group were （70. 295 ± 109. 917） pg/ml and （40. 468 ±41. 739） pg/ml, respectively. Two alleles, a variant allele ins and a wild type del were identified in the exon 4 of Tim-1. The genotype frequencies of del/del, ins/del and ins/ins were 0. 617,0.321 and 0. 062 in healthy subjects and 0.652,0. 326 and 0.022 in systemic lupus erythematosus patients, respectively. The difference between two groups had no statistically significant. Conclusion： Our results show Tim-1 is related with sys- temic lupus erythematosus. The exon 4 gene polymorphism of Tim-1 is not associated with systemic lupus erythematosus in Han popula- tion of central china. This SNP dose not change the Tim-1 protein level in serum.

关 键 词：人T细胞免疫球蛋白粘蛋白分子-1 系统性红斑狼疮 基因多态性 外显子 

分 类 号：R593.241[医药卫生—内科学]