上海地区汉族人HLA-DQA1启动子多态性以及QAP、DQA1单元型连锁分析

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(QAP)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.

Polymorphisms in the upstream regulatory region of DQA1 genes and QAP-DQA1 haplotypes analysis of Han nationality in Shanghai Chinese population

Objective: To analyse the polymorphisms of the HLA-DQA1 promoter (QAP) and the linkage pattern between DQA1 and QAP of Han nationanlity in Shanghai Chinese population. Methods: PCR-RFLP and PCR-SSO gene typing techniques were used to detect HLA-DQA1 alleles and QAP alleles respectively. Results:9 alleles of QAP have been found in 96 unrelated health donors. Three linkage patterns between QAP and DQA1 alleles were found: 1) one-to-one linkages been QAP and DQA1 alleles; 2) the same QAP allele links with different DQA1 alleles; 3) the same DQA1 allele links with different QAP alleles. The frequencies of QAP and linkages disequilibrium of QAP-DQA1 are different between Shanghai population and Italian, German population. Conclusion: No new QAP, allele has been found in Han nationality in Shanghai Chinese population. But the frequencies of QAP alleles and linkage pattern of QAP-DQA1 are quite different between Shanghai Chinese population and Caucasions.