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应用聚合酶链反应（PCR）、PCR/SSCP 和克隆测序等方法比较分析汉族1-型糖尿病患者与正常对照者HLA-DQB 1 5’-调控区多态性。结果显示携带不同等位基因的患者与对照者DQB 1 5’-调控区y s box 核苷酸序列相同，且与白种人基因结构一致；y box 核苷酸序列存在二种结构，CCTAGAGACAGATT 序列常常与DQB 1 *0302 等位基因在同一单倍型；转录起始位点至y box 间-44 至-61 位存在多态性，-59 至-61 位AAG等位基因可能与1-型糖尿病易感相关联，在2 例携带DQB 1 *0601 等位基因患者的-131 至-128 位间发现CACCACA A 单个碱基取代突变。表明HLA-DQB 1 基因5’-调控区主要作用元件旁侧核苷酸变异可能参与1-型糖尿病的病因学。
Polymerase chain reaction (PCR), PCR / SSCP and cloning sequencing were used to analyze the HLA-DQB 1 5’-regulatory region polymorphism in patients with type 1 diabetes and normal controls. The results showed that the nucleotide sequence of ys box in DQB 1 5’-regulatory region of patients carrying different alleles was the same as that of Caucasian individuals, and the nucleotide sequence of y box had two structures. The CCTAGAGACAGATT sequence often With the DQB 1 * 0302 allele in the same haplotype; transcription start to y box between -44 to -61 polymorphism, -59 to -61 bit AAG allele may be associated with type 1 diabetes Susceptibility, CACCACA A single-nucleotide substitution mutations were found between -131 and -128 in 2 patients carrying the DQB 1 * 0601 allele. It is indicated that the nucleotide variation in the side of the 5 ’regulatory region of HLA-DQB1 gene may be involved in the etiology of type 1 diabetes.