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Sequence variations in the transcriptional regulatory region and intron1 of HLA-DQB1 gene and their linkage in southern Chinese ethnic groups

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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.

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Acknowledgements

All the experiments comply with the regulations in China. This research was supported by “National Outstanding Young Scientist Award” (No.39725007); the projects (No. 30178073 and 30100275); the key project (No. 69935020) of 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 and Technology, Guangdong Provincial Department of Science and Technology, and the Bureau of Science and Technology of Guangzhou City.

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Authors and Affiliations

  1. 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

    Yunping Xu, Qingsong Hu, Zehuan Liu, Yang Shen, Xiaoyi Liu, Bin Lin, Yuping Wu, Shangwu Chen & Anlong Xu

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  1. Yunping Xu
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  2. Qingsong Hu
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  3. Zehuan Liu
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  4. Yang Shen
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  5. Xiaoyi Liu
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  6. Bin Lin
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  7. Yuping Wu
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  8. Shangwu Chen
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  9. Anlong Xu
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Correspondence to Anlong Xu.

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Xu, Y., Hu, Q., Liu, Z. et al. Sequence variations in the transcriptional regulatory region and intron1 of HLA-DQB1 gene and their linkage in southern Chinese ethnic groups. Immunogenetics 57, 465–478 (2005). https://doi.org/10.1007/s00251-005-0017-x

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  • DOI: https://doi.org/10.1007/s00251-005-0017-x

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