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本文报告汉族人HLA－DQAI启动子区（QAP）基因多态性。汉族人HLA－DQA1Xbox第-111位是腺苷酸（A）而不是鸟苷酸（G），-98位可是A或G；Ybox-71位为A；Sbox-131位为G；IDDM患者在Sbox5’上游和X、Ybox之间易发生单个核苷酸取代。并发现1例携带DR2－IDDM患者AAP的-157和-158位间发生CCA核苷酸插入突变。提示HLA－DQA1启动子区多态性可能在ID－DM的遗传易感性中起着重要作用。
This article reports Han ethnic HLA-DQAI promoter (QAP) gene polymorphisms. Han HLA-DQA1Xbox at position -111 is adenosine (A) instead of guanylic acid (G), at position -98 but A or G; position Ybox-71 at position A; position S-G-131 at position G; A single nucleotide substitution is prone to occur between Sbox5 ’upstream and X, Ybox. A CCA nucleotide insertion mutation was found between -157 and -158 of AAP in patients with DR2-IDDM. It is suggested that the polymorphism of HLA-DQA1 promoter may play an important role in the genetic predisposition of ID-DM.