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HEREDITAS ›› 2011, Vol. 33 ›› Issue (2): 138-146.doi: 10.3724/SP.J.1005.2011.00138

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Polymorphic Alu insertions and their associations with HLAⅠalleles in Yugu and Zhuang ethnic populations

SHI Lei, YAO Yu-Feng, SHI Li, TAO Yu-Fen, YU Liang, HUANG Xiao-Qin, LIN Ke-Qin, YI Wen, SUN Hao,  YANG Zhao-Qing, CHU Jia-You   

  1. Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China
  • Received:2010-04-15 Revised:2010-06-22 Online:2011-02-20 Published:2011-02-25
  • Contact: Jiayou Chu E-mail:chujy@imbcams.com.cn

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 identi-fication of HLA class I allele and variation of haplotype lineages in different populations.

Key words: HLA class I gene, Alu insertion, progenitor haplotypes