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HLA Polymorphism and Disease Association Study


  The major researches of HLA group include three aspects: HLA polymorphism in Chinese population (allele distribution, population genetics); SNPs study in HLA classic genes (detection, evolution mechanism); Complex disease association study (Cerivical cancer, Ankylosing Spondylitis, IgA nephropathy and Type I diabetes).

Research Areas

1. Anthropology studies in china

  Plenty of HLA alleles identified in Chinese populations suggest a great diversity in Chinese populations.Some of alleles were detected high frequently in Chinese.Several alleles had clear south-to-north gradients in their frequencies distribution.Nine novel alleles were identified, and nomenclatured by WHO.


                                                                                                                                          DQB1 allele frequency distribution in chinese


2.Single Nucleotide Polymorphisms of HLA region in Chinese populations

  We analyze Single Nucleotide Polymorphisms (SNPs) and haplotypes of HLA classic class I and II genes by using long-fragment PCR amplification and sequencing. We for the first time analyzed polymorphisms in the regulatory regions of HLA genes including 5’ promoter and 3’UTR. Moreover, the functional studies suggest these regions may play an important role in immune regulation. Our next aim is to construct SNPs and haplotypes map of HLA region (4Mb) in Chinese by 454 sequencing technology, establish MHC tagSNPs paltform for association study on immune-related disease and population genetic study. Polymorphisms in HLA are complicated; our study will provide important data to the International Hapmap Project.


Principle of 454 sequencing technology                                MHC genes in chromosome 6



3.Disease association study

  We previously studied the association of HLA Polymorphisms with HBV infection, endometriosis and cervical cancer based on sequence based-typing method. We found DR4, DR7 and DR13 may be the resistant genes in HBV infection; DQA1*0401 and DQA1*0301 may be the susceptible and resistant genes of endometriosis, respectively; DQB1*060101,DQB1*050201 may be the susceptible and resistant genes of Cervical Cancer, respectively. The disease association study of Ankylosing Spondylitis, IgA nephropathy and Type-I diabetes is ongoing based on multiplex sites analysis in whole genome instead of genotyping analysis on single locus.

High-resolution DNA melting analysis for SNPs genotyping

June 16, 2018. last modified
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