title: Single nucleotide polymorphisms in the regulatory regions of the HLA-DRB-expressed genes.
abstract: DRB genes encode proteins that play an important role in the immune response, and their expressional regulation is crucial to the immune reaction. Sequence variation at the regulatory region can directly affect the gene expression level. The aim of the present study was to use Chinese samples to investigate the variation in the regulation region of the human leukocyte antigen (HLA)-DRB-expressed genes. Seventy- one single nucleotide polymorphisms (SNPs) were found in the four HLA-DRB-expressed genes. By comparing these data with SNPs in the U.S. National Center for Biotechnology Information dbSNP database, 69 SNPs (97.2%) were found to be novel. In addition, two genetic variations of insertion-deletion polymorphisms were discovered within the regulatory region of HLA-DRB1 gene. These polymorphisms can be used as resources of markers for association studies of complex diseases, for assessment of individual predisposition to diseases, and as research markers for population genetics and evolution.
authors.affiliation: Key Laboratory of Genetic Engineering of MOE, Department of Biochemistry, College of Life Sciences, Sun Yat-Sen (Zhongshan) University, Guangzhou, 510275, PR China.
authors.forename: Xinlan
authors.initials: X
authors.lastname: Fan
authors.forename: Dongming
authors.initials: D
authors.lastname: Lan
authors.forename: Bin
authors.initials: B
authors.lastname: Lin
authors.forename: Yi
authors.initials: Y
authors.lastname: Xie
authors.forename: Zehuan
authors.initials: Z
authors.lastname: Liu
authors.forename: Guoqing
authors.initials: G
authors.lastname: Zhen
authors.forename: Yonggui
authors.initials: Y
authors.lastname: Fu
authors.forename: Anlong
authors.initials: A
authors.lastname: Xu
mesh_terms: D001483:Base Sequence; D005809:Genes, Regulator; D006684:HLA-DR Antigens / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment
chemical_list: D006684:HLA-DR Antigens