title: Sequence variations in the transcriptional regulatory region and intron1 of HLA-DQB1 gene and their linkage in southern Chinese ethnic groups.
abstract: Sequence polymorphism in the transcriptional regulatory region extending to intron1 (DQRRI1) of HLA-DQB1 gene, and their haplotypic distributions were investigated in southern Chinese populations. We cloned and sequenced a 1.1-kb segment containing the transcriptional regulatory region, exon1, and partial intron1 of HLA-DQB1 gene of 37 individuals from nine different ethnic groups in southern China. A high-density map of 162 polymorphisms, including 152 single nucleotide polymorphisms (SNPs) and 10 insertion-deletion polymorphisms, was revealed. By comparing these data with SNPs deposited in dbSNP database in National Center for Biotechnology Information and polymorphisms that have been reported, 66 polymorphisms were firstly reported. A total of 16 different haplotypes were detected based on these 162 polymorphisms. The distribution of 16 alleles of DQRRI1 as well as their linkage with DQB1 exon2 alleles was also investigated based on the population study and phylogenetic analysis. Tight linkage between these two regions were discovered, as each of DQB1*02, DQB1*03, DQB1*04, DQB1*05, and DQB1*06 alleles was seen to be linked with specific DQRRI1 allele. Our study showed different pattern of transcriptional regulatory region, exon1, and intron1 of different DQB1 alleles.
authors.affiliation: The Key laboratory of Genetic Engineering of MOE, State Key Laboratory of Biocontrol, Department of Biochemistry, College of Life Sciences, Sun Yat-Sen (Zhongshan) University, Guangzhou, 510275, PR China.
authors.forename: Yunping
authors.initials: Y
authors.lastname: Xu
authors.forename: Qingsong
authors.initials: Q
authors.lastname: Hu
authors.forename: Zehuan
authors.initials: Z
authors.lastname: Liu
authors.forename: Yang
authors.initials: Y
authors.lastname: Shen
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Liu
authors.forename: Bin
authors.initials: B
authors.lastname: Lin
authors.forename: Yuping
authors.initials: Y
authors.lastname: Wu
authors.forename: Shangwu
authors.initials: S
authors.lastname: Chen
authors.forename: Anlong
authors.initials: A
authors.lastname: Xu
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002681:China; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D005802:Genes, MHC Class II; D008040:Genetic Linkage; D014644:Genetic Variation; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006239:Haplotypes; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010802:Phylogeny; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D004247:DNA