上海地区汉族人HLA-DQB1启动子多态性以及QBP-DQB1连锁分析

Polymorphisms in the Upstream Regulatory Region of DQB1 Genes and QBP-DQB1 Haplotypes Analysis of Han Nationality of Chinese in Shanghai Area

为分析上海地区汉族人HLA DQB1启动子 (QBP )多态性 ,以及QBP与DQB1的连锁不平衡 ,我们选用 2 4个序列特异性寡核苷酸探针 (SSO )检测QBP多态性。在目前已知的 12种QBP等位基因中 ,我们仅检测到 10种 (未发现新的QBP类型 ) ,并且发现QBP与DQB1的某些等位基因之间存在一定的连锁格局。我们的结果与高加索人群研究结果比较发现 ,无论是QBP基因频率还是QBP DQB1单元型频率 ,在两种不同人群中都存在明显差异。结果提示 ,由于不同的QBP等位基因功能不同 ,因此QBP DQB1之间不同的单倍型组合可能是HLA与疾病关联的另一个因素。

To analyse the polymorphisms of the HLA DQB1 promoter(QBP) and the linkage disequilibrium between DQB1 and QBP in Han nationality of chinese in Shanghai area 24 sequence specific oligonucleotide probes were used to detect QBP's polymorphism A total of 10 out of 12 known QBP alleles were observed in 102 unrelated healthy donors No new QBP allele was found in Shanghai Chinese population But there are different linkages between QBP and DQB1 alleles The frequencies of QBP and linkages disequilibrium of QBP DQB1 are different between Shanghai Chinese population and Caucasoids population Since different QBP alleles have the functional differences,the haplotype of QBP DQB1 may be of important factor to correlate HLA with disease