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目的 探讨细胞毒T细胞相关抗原 4 (CTLA 4 )基因A/G多态性与汉族人糖尿病易感性的关系。方法 采用PCR RFLP技术对 1、2型糖尿病患者各 31例及健康对照 36例进行CTLA 4基因A/G多态性检测。结果 1型糖尿病患者较健康对照等位基因G频率明显增加 (6 6 1%vs 34 7% ;P <0 0 0 0 5 ;OR =3 6 70 ) ,表现为GG纯合子增多 (48 4 %vs 2 2 2 % ;P =0 0 2 5 ;OR =3 2 81) ,AA纯合子减少 (16 1%vs 5 2 8% ;P =0 0 0 2 )。 2型糖尿病患者等位基因A/G的频率虽与健康人相似 (5 0 0 / 5 0 0 %vs 6 5 3/ 34 7% ;P =n s ) ,但基因型频率却不同 :AG杂合子增多 (5 4 8%vs 2 5 0 % ;P =0 0 12 ;OR =3 6 43) ,AA纯合子减少 (2 2 6 %vs 5 2 8% ;P =0 0 11结论 CTLA 4 49位点AA纯合子对糖尿病具有一定保护性。而编码Ala的等位基因G(无论是GG纯合子还是AG杂合子 )增加了糖尿病的易感性
Objective To investigate the relationship between A / G polymorphism of cytotoxic T cell associated antigen 4 (CTLA 4) gene and susceptibility to diabetes in Han nationality. Methods The PCR-RFLP technique was used to detect the CTLA 4 A / G polymorphism in 31 patients with type 1 diabetes mellitus and 36 healthy controls. Results The frequency of G allele in type 1 diabetic patients was significantly higher than that in healthy controls (6 6 1% vs 34 7%; P 0 100 05; OR 3 36 70) vs 2 2 2%; P = 0 0 2 5; OR = 3281). AA homozygotes decreased (16 1% vs 528%; P = 0 0 0 2). The frequency of allele A / G in type 2 diabetic patients was similar to that in healthy subjects (P <0.05), but genotype frequencies were different: AG heterozygotes (52.4% vs 52.0%; P = 0 0 12; OR = 3643), AA homozygotes decreased (22.6% vs 52.8%; P = 0 011 Conclusions CTLA 4 49 Point AA homozygotes have some protection against diabetes while allele G encoding Ala (whether GG homozygous or AG heterozygous) increases the susceptibility to diabetes