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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 1型糖尿病的易感基因
Objective To investigate the distribution of antigen peptide transporter (TAP) gene in a group of Han people in southern China and its association with type 1 diabetes mellitus. Methods The polymorphism sites of TAP1 and TAP2 gene were detected by ARMS in 66 patients with type 1 diabetes mellitus and 69 normal controls. Results The distribution of polymorphic loci in TAP gene in healthy Han nationality in South China was basically the same as that in other groups at home and abroad, but there was a certain degree of difference, suggesting that TAP1 and TAP2 genotypes may have differences in ethnic and regional distribution . The frequency of haplotype TAP1D and haplotype TAP2A of TAP1 gene in normal population was significantly higher than that in type 1 diabetic patients (RR 0.71 and 0.31 respectively, P <0.01), while TAP2 The distribution frequencies of TAP1A and TAP2F in the normal population were significantly lower than those in the type 1 diabetic patients (RR, 4.10 and 8.94, respectively, P <0.01 and <0.05, respectively). Conclusion TAP1D and TAP2A are associated with the protective effect of type 1 diabetes mellitus and may be the protective genes of type 1 diabetes. TAP1A and TAP2F are associated with the susceptibility to type 1 diabetes and may be susceptible genes of type 1 diabetes