Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes

HLA-DRB1和DQ基因与I型糖尿病遗传易感相关性的联合研究(英文)

Objective To study the relationship between human leukocyte antigen (HLA) DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children Methods Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products Results DRB1*0301, DQA1*0301, DQB1*0201 alleles and DRB1*0301 DQA1*0501 DQB1*0201 haplotype were significantly increased in patients, while DQA1*0103 and DQB1*0601 alleles were significantly increased in controls The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients Conclusions DRB1*0301, DQA1*0301 and DQB1*0201 confer susceptibility while DQA1*0103 and DQB1*0601 confer protection to type 1 diabetes DRB1*0301 DQA1*0501 DQB1*0201 haplotype offers a predisposition to type 1 diabetes in North Chinese Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up

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。