Catalog of 162 single nucleotide polymorphisms (SNPs) in a 4.7-kb region of the HLA-DP loci in southern Chinese ethnic groups
- 15 January 2004
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Human Genetics
- Vol. 49 (2), 73-79
- https://doi.org/10.1007/s10038-003-0110-7
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.Keywords
This publication has 14 references indexed in Scilit:
- A vision for the future of genomics researchNature, 2003
- Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PDAmerican Journal of Human Genetics, 2002
- DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5′ of the CYP1A2 Gene: Implications for Human Population History and Natural SelectionAmerican Journal of Human Genetics, 2002
- Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversityAmerican Journal of Physical Anthropology, 2002
- Coalescing into the 21st Century: An Overview and Prospects of Coalescent TheoryTheoretical Population Biology, 1999
- REGULATION OF MHC CLASS II GENES: Lessons from a DiseaseAnnual Review of Immunology, 1996
- The different level of expression of HLA-DRB1 and -DRB3 genes is controlled by conserved isotypic differences in promoter sequenceHuman Immunology, 1993
- Sequences and Factors: A Guide to MHC Class-II TranscriptionAnnual Review of Immunology, 1992
- Sequences And Factors: A Guide To Mhc Class-Ii TranscriptionAnnual Review of Immunology, 1992
- Allelic polymorphism in transcriptional regulatory regions of HLA-DQB genes.The Journal of Experimental Medicine, 1991