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目的:分析上海地区汉族人HLA-DQA1启动子(QAP)多态性,以及QAP与DQA1的连锁关系。方法:采用PCR-RFLP分析DQA1等位基因多态性;采用PCR-SSO检测QAP多态性。结果:在96个个体中检测到9种DQA1启动子(QA)等位基因。QAP与DQA1之间有3种连锁格局:①QAP与DQA1存在一对一关系;②一种QAP可与不同的DQA1组成多种单元型;③一种DQA1等位基因可受到多种类型的QAP调控。与意大利、德国人群比较发现QAP和QAP-DQA1单倍型频率在不同人群中存在差异。结论:上海汉族人中未发现新的QAP等位基因,但QAP等位基因的频率以及与DQA1的连锁格局和白种人相比有明显差异。
Objective: To analyze the polymorphism of HLA-DQA1 promoter (QAP) and the linkage between QAP and DQA1 in Han Chinese in Shanghai. Methods: Polymorphisms of DQA1 alleles were analyzed by PCR-RFLP. QAP polymorphism was detected by PCR-SSO. Results: Nine DQA1 promoter (QA) alleles were detected in 96 individuals. There are three linkage patterns between QAP and DQA1: ① There is a one-to-one relationship between QAP and DQA1; ② One QAP can form multiple haplotypes with different DQA1; ③ One DQA1 allele can be regulated by various types of QAPs . Compared with the Italian and German populations, there was a difference in QAP and QAP-DQA1 haplotype frequencies between different populations. CONCLUSION: No new QAP allele was found in Shanghai Han people, but the frequency of QAP allele and the difference between DQA1 linkage pattern and Caucasians were significantly different.