title: The association between HLA-A, -B alleles and major histocompatibility complex class I polymorphic Alu insertions in four populations in China.
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.
authors.affiliation: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Yao
authors.forename: L
authors.initials: L
authors.lastname: Shi
authors.forename: L
authors.initials: L
authors.lastname: Shi
authors.forename: K
authors.initials: K
authors.lastname: Lin
authors.forename: L
authors.initials: L
authors.lastname: Yu
authors.forename: H
authors.initials: H
authors.lastname: Sun
authors.forename: X
authors.initials: X
authors.lastname: Huang
authors.forename: Y
authors.initials: Y
authors.lastname: Tao
authors.forename: W
authors.initials: W
authors.lastname: Yi
authors.forename: S
authors.initials: S
authors.lastname: Liu
authors.forename: J
authors.initials: J
authors.lastname: Chu
mesh_terms: D000483:Alleles; D020087:Alu Elements / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002681:China; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D015234:HLA-A Antigens / Q000235:genetics*; D015235:HLA-B Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens