The association between HLA-A, -B alleles and major histocompatibility complex class I polymorphic Alu insertions in four populations in China

Tissue Antigens. 2009 Jun;73(6):575-81. doi: 10.1111/j.1399-0039.2009.01251.x. Epub 2009 Apr 6.

Abstract

The study of the association between polymorphic Alu insertions [human leukocyte antigen (HLA)-Alu] at five loci and HLA class I alleles at two loci allows for better identification of the origins and evolution of HLA class I region haplotypes in different populations. In the present study, we determined the frequencies of five HLA-Alus and their associations with HLA-A and -B alleles in Han, Wa, Maonan, and Jinuo populations. Our results showed a strong association between AluHG insertion and HLA-A*02 in all populations studied; however, the associations between AluHJ insertion and HLA-A*1101 and HLA-A*2402 and AluHF insertion and HLA-A*2601 were only observed in Han. The AluMICB insertion showed a strong association with HLA-B*5502 in Han, Maonan, and Jinuo. HLA-A*0101, HLA-A*0201, HLA-A*0203, HLA-A*1101, HLA-A*2402, HLA-A*2601, and HLA-A*3101 alleles were associated with one or more of the three different Alu elements within the alpha block as independent haplotypes, and HLA-A*0101, HLA-A*0201, HLA-A*0203, HLA-A*1101, and HLA-A*2402 alleles were associated with at least two different Alu insertions as a haplotype within the alpha block. We conclude that the HLA class I region haplotypes of the four populations were derived from different progenitor haplotypes, and relatively high rates of recombination between individuals with HLA-A alleles and different HLA-Alus occurred in this region.

MeSH terms

  • Alleles
  • Alu Elements / genetics*
  • Asian People / genetics
  • China
  • Gene Frequency / genetics*
  • Genetics, Population
  • Genotype
  • HLA-A Antigens / genetics*
  • HLA-B Antigens / genetics*
  • Haplotypes / genetics
  • Humans
  • Polymorphism, Genetic

Substances

  • HLA-A Antigens
  • HLA-B Antigens