抗原肽运载体基因多态性与1型糖尿病关联性的初步探讨  

Contribution of transporter associated with antigen processing gene polymorphism to predisposition to type 1 diabetes: a preliminary study

作　　者：严励[1] 蔡梦茵[1] 丁鹤林[1] 程桦[1] 傅祖植[1] 

机构地区：[1]中山大学附属第二医院内分泌科,广州510120

出　　处：《中华内分泌代谢杂志》2003年第1期40-42,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的　初步探讨抗原肽运载体 (TAP)基因在华南地区一组汉族人中的分布及其与 1型糖尿病的关联性。方法　采用扩增阻滞突变体系 (ARMS)检测TAP1及TAP2基因各多态性位点在 66例 1型糖尿病患者及 69例正常对照组中的分布。结果　TAP基因各多态性位点在本组华南地区健康汉族人中的分布与国内外其它组资料基本一致 ,但存在一定程度的差异 ,提示TAP1及TAP2基因型可能有民族、地区分布的差异。TAP1基因的单倍体型TAP1D和单倍体型TAP2A在正常人群中的分布频率显著高于 1型糖尿病组 (RR分别为 0 .1 7和 0 .31 ,P均 <0 .0 1 ) ;而TAP2基因TAP1A和TAP2F在正常人群中的分布频率显著低于 1型糖尿病组 (RR分别为 4 .1 0和 8.94,P分别 <0 .0 1和 <0 .0 5)。结论　TAP1D及TAP2A与 1型糖尿病的保护性相关 ,可能是 1型糖尿病的保护基因 ;TAP1A及TAP2F与 1型糖尿病的易感性相关 ,可能是Objective To ex am ine the distribution of transporter associated with antigen processing (TAP) gen e polymorphism in a southern Chinese population and the association between TAP gene polymorphism and predisposition to type 1 diabetes. Methods TAP genotyping in 66 type 1 diabetes patients and 69 healthy c ontrols was performed by amplification refractory mutation system (ARMS). Results TAP genotypes in healthy controls showed simi lar but somewhat different distributions as compared with studies in other count ries and other regions of China. The frequencies of TAP1D haplotype and TAP2A ha plotypes were significantly higher in the healthy controls than those in the typ e 1 diabetes patients (RR 0.17 and 0.31 respectively, both P<0.01), and the frequencies of TAP1A heplotype and TAP2F h aplotype were significantly lower in the healthy controls than those in the type 1 diabetes patients (RR 4.10 and 8.94, P<0.01 and P<0.05, respectively). Conclus ion TAP1D and TAP2A haplotypes might confer protection against type 1 diabetes while TAP1C and TAP2F haplotypes might confer susceptibility to type 1 diabetes.

关 键 词：胰岛素依赖型糖尿病 抗原肽运载体 多态现象 

分 类 号：R587.1[医药卫生—内分泌]