title: Association and differentiation of MHC class I and II polymorphic Alu insertions and HLA-A, -B, -C and -DRB1 alleles in the Chinese Han population.
abstract: In order to investigate the polymorphism of Alu insertions (POALINs) in the HLA region, we genotyped ten Alu loci (AluMICB, AluTF, AluHJ, AluHG, AluHF in the HLA class I region and AluDPB2, AluDQA2, AluDQA1, AluDRB1, AluORF10 in the HLA class II region) to determine their allele frequencies and associations with the HLA-A, HLA-B, HLA-C and HLA-DRB1 genes in the Chinese Han population. Our results showed the ten-loci POALINs varied in frequency between 0.003 and 0.425. By comparing the data of the ten-loci POALIN in Chinese Han with Japanese and Caucasian data, marked differences were observed between the three ethnic groups at the allelic or haplotypic levels. Each POALIN was in significant linkage disequilibrium with a variety of HLA-A, -B, -C and -DRB1 alleles, and was associated with a variety of HLA-A, -B, -C and -DRB1 allele in Chinese Han. This comparative study of multilocus POALINs in the HLA class I and II regions of the Chinese Han population shows that POALINs alone or as haplotypes together with the HLA class I and II alleles are informative genetic markers for the identification of HLA class I and II allele and variations, such as crossing over events within the same and/or different populations.
authors.affiliation: Yunnan Key Laboratory of Vaccine Research and Development on Severe Infectious Diseases, Institute of Medical Biology, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC), Kunming, 650118, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Shi
authors.forename: J K
authors.initials: JK
authors.lastname: Kulski
authors.forename: Hua
authors.initials: H
authors.lastname: Zhang
authors.forename: Zhaomei
authors.initials: Z
authors.lastname: Dong
authors.forename: Danfeng
authors.initials: D
authors.lastname: Cao
authors.forename: Jingxian
authors.initials: J
authors.lastname: Zhou
authors.forename: Jiankun
authors.initials: J
authors.lastname: Yu
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Yao
authors.forename: Li
authors.initials: L
authors.lastname: Shi
mesh_terms: D000483:Alleles; D020087:Alu Elements / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D015234:HLA-A Antigens / Q000235:genetics*; D015235:HLA-B Antigens / Q000235:genetics*; D015236:HLA-C Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D059811:HLA-DRB1 Chains; D015395:Histocompatibility Antigens Class I; D000949:Histocompatibility Antigens Class II; D004247:DNA