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目的 研究中国人中组织相容性复合体 DRB1和DQ基因与I型糖尿病的易感相关性。方法 用聚合酶链反应 (PCR)扩增DQA1和DQB1等位基因的第二外显子区 ,用序列特异性寡核苷酸探针杂交技术 (SSOPH)对扩增产物进行分型。结果 DRB1 0 30 1、DQA1 0 30 1、DQB1 0 2 0 1基因和DRB1 0 30 1 DQA1 0 50 1 DQB1 0 2 0 1单倍型在病人中的频率显著增加 ,DQA1 0 10 3和DQB1 0 6 0 1基因在对照组中的频率显著增加 ;DR4和DR9单倍型在病人与对照中的频率分布无显著性差异 ,DR3/DR4和DR3/DR9杂合子在病人中的频率显著高于对照组。结论 DRB1 0 30 1、DQA1 0 30 1和DQB1 0 2 0 1为I型糖尿病的易感性基因 ,DQA1 0 10 3和DQB1 0 6 0 1为I型糖尿病的保护性基因。DRB1 0 30 1 DQA1 0 50 1 DQB1 0 2 0 1为I型糖尿病的易感性单倍型。DR4和DR9在病人与对照中频率分布无显著性差异 ,DR3/DR4和DR3/DR9杂合子在病人中频率却显著增加 ,表明DR3和DR4或DR4和DR9单倍型的易感性效果之间产生了协同作用。
Aim To investigate the susceptibility of type 1 diabetes mellitus (DRB1) and DQ genes in Chinese patients with histocompatibility complex. Methods The second exon of DQA1 and DQB1 alleles were amplified by polymerase chain reaction (PCR), and the amplified products were genotyped by sequence - specific oligonucleotide probe hybridization (SSOPH). Results The frequency of DRB1 0 30 1, DQA1 0 30 1, DQB1 0 2 0 1 gene and DRB1 0 30 1 DQA1 0 50 1 DQB1 0 2 0 1 haplotype increased significantly in patients. DQA1 0 10 3 and DQB1 0 6 There was no significant difference in the frequencies of DR4 and DR9 haplotype between patients and controls. The frequency of DR3 / DR4 and DR3 / DR9 heterozygote in patients was significantly higher than that in control group . Conclusion DRB1 0 30 1, DQA1 0 30 1 and DQB1 0 2 0 1 are susceptibility genes of type 1 diabetes. DQA1 0 10 3 and DQB1 0 6 0 1 are protective genes of type 1 diabetes. DRB1 0 30 1 DQA1 0 50 1 DQB1 0 2 0 1 is a susceptibility haplotype for type 1 diabetes. There was no significant difference in the frequency distribution between DR4 and DR9 in patients and controls, but the frequency of DR3 / DR4 and DR3 / DR9 heterozygotes was significantly increased in patients, indicating the susceptibility of DR3 and DR4 or DR4 haplotypes to DR9 Synergy.