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目的 研究HLA DPB1、DQB1基因在中国汉族 1型糖尿病患者中的多态性分布及其与自身抗体的相关性。方法 采用基于核酸序列测定的基因分型技术 ,确定 6 8例 1型糖尿病患者及5 0例对照的HLA DPB1、DQB1基因型。用酶联免疫吸附法测定自身抗体〔谷氨酸脱羧酶抗体(GADA) ,胰岛细胞抗体 (ICA) ,胰岛素自身抗体 (IAA)〕。结果 在 1型糖尿病患者中 ,DPB1 0 40 2和DQB1 0 30 1等位基因频率显著低于对照 ,DPB1 2 2 0 1及DQB1 0 2 0 1、 0 30 3及 0 6 0 4等位基因频率显著高于对照。在等位基因为DPB1 0 40 2的患者IAA阳性率显著低于此等位基因阴性者 ,在等位基因为DQB1 0 2 0 1的患者GADA阳性率显著高于此等位基因阴性者。结论 在中国汉族人群中 ,DPB1 2 2 0 1、DQB1 0 2 0 1、 0 30 3、 0 6 0 4是 1型糖尿病易感性等位基因 ,DPB1 0 40 2及DQB1 0 30 1是该病保护性等位基因。DPB1 0 40 2与IAA呈负相关 ,DQB1 0 2 0 1与GADA呈正相关。
Objective To study the polymorphism distribution of HLA-D DPB1 and DQB1 genes in Chinese Han patients with type 1 diabetes mellitus and its correlation with autoantibodies. Methods Based on the genotyping technique based on nucleic acid sequencing, HLA - D DPB1 and DQB1 genotypes were determined in 68 patients with type 1 diabetes mellitus and 50 controls. Autoantibodies (GADA, ICA, IAA) were determined by enzyme-linked immunosorbent assay. Results In type 1 diabetic patients, the frequencies of the alleles of DPB1 0 40 2 and DQB1 0 30 1 were significantly lower than those of the controls, DPB1 2 0 1 and DQB1 0 2 0 1, 0 30 3 and 0 60 4 alleles Significantly higher than the control. The positive rate of IAA in patients with allele DPB1 0 40 2 was significantly lower than those with negative allele, and the positive rate of GADA was significantly higher in patients with allele DQB1 0 2 0 1 than those with negative allele. Conclusions In Chinese Han population, DPB1 2 2 0 1, DQB1 0 2 0 1, 0 30 3, 0 6 0 4 are susceptibility alleles of type 1 diabetes, DPB1 0 40 2 and DQB1 0 30 1 are the protection of the disease Sexual Alleles. DPB1 0 40 2 was negatively correlated with IAA, while DQB1 0 2 0 1 was positively correlated with GADA.