Abstract
HLA class-II proteins are cell-surface molecules that present antigens to T cells, and their expressional regulation is crucial to the immune reaction. Sequence variation at the regulatory region can directly affect the gene expression level. We cloned and sequenced a 4.7-kb region containing the regulatory region, exon1, and partial intron1 of both HLA-DPA1 and DPB1 genes in 25 variable sequences from southern Chinese ethnic groups and got a high-density map of 162 single nucleotide polymorphisms (SNPs): seven in 5′-flanking regions, four in 5′-untranslated regions, and four in the coding regions. By comparing these data with SNPs in dbSNP database in the NCBI, 145 SNPs (89.5%) were novel. In addition, eight genetic variations of insertion-deletion polymorphisms (INDELs) were discovered within the 4.7-kb region. These high-resolution maps can be used as resources of markers for association studies of complex diseases, assessment of individuals’ predisposition to diseases, and tailoring of therapies, as well as research markers for population genetics and evolution.
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Acknowledgements
This research was supported by projects (Nos. 30178073 and 30100275) and the key project (No. 69935020) of the National Natural Science Foundation of China, the key project (No. 021691) of the Guangdong Natural Science Foundation, and the projects (No. 2001AA224021-04) of the State High-Tech Development Project of the Ministry of Science & Technology, Guangdong Provincial Department of Science and Technology, and the Bureau of Science and Technology of Guangzhou City.
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Liu, X., Liu, Z., Lin, B. et al. Catalog of 162 single nucleotide polymorphisms (SNPs) in a 4.7-kb region of the HLA-DP loci in southern Chinese ethnic groups. J Hum Genet 49, 73–79 (2004). https://doi.org/10.1007/s10038-003-0110-7
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DOI: https://doi.org/10.1007/s10038-003-0110-7
