[Polymorphic Alu insertions and their associations with HLA I alleles in Yugu and Zhuang ethnic populations]

Yi Chuan. 2011 Feb;33(2):138-46. doi: 10.3724/sp.j.1005.2011.00138.
[Article in Chinese]

Abstract

Many studies have show that the structurally polymorphic Alu insertion within HLA class I region are useful tools for investigating the origin, evolution and recombination of HLA class I progenitor haplotypes and gene diversity in different ethnic populations. In the present study, we determined the frequencies of HLA-Alus (i.e., AluMICB, AluTF, AluHJ, AluHG, and AluHF) in Zhuang and Yugu ethnic populations at first. Then, combined with HLA genotyping data, we studied associations between HLA-Alus and HLA-A alleles in Zhuang, Yugu, Bulang, Dai, and Hani ethnic populations. Our results showed that (1) the frequencies of five HLA-Alus were 1.5%~35.8% and 9.2%~34.8% in Zhuang and Yugu, respectively; and (2) the results of association between HLA-A alleles and HLA-Alu showed strong association between AluHG insertion and HLA-A 02 subtypes in all populations, association between AluHJ insertion and HLA-A 2402 in all populations, and association between AluHJ insertion and HLA-A 1101, -A 2407 in Bulang. The present study suggested that the distribution of HLA-Alus as well as the associations between HLA-Alus and HLA class I alleles are variable in different ethnic populations. HLA Alus alone or together with the HLA class I alleles are informative genetic markers for the identification of HLA class I allele and variation of haplotype lineages in different populations.

MeSH terms

  • Alu Elements*
  • Asian People / ethnology*
  • Asian People / genetics*
  • China / ethnology
  • Gene Frequency
  • Genetic Variation
  • Genetics, Population
  • HLA-A Antigens / genetics*
  • Humans
  • Mutagenesis, Insertional*
  • Polymorphism, Genetic*

Substances

  • HLA-A Antigens