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HLA ; 88(3): 87-99, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27558013

RESUMO

HLA-A, -B and -C alleles of 285 individuals, representing three Iranian Lur populations and one Iranian Kurd population were sequenced completely, yielding human leukocyte antigen (HLA) class I genotypes at high resolution and filling four fields of the official HLA nomenclature. Each population has 87-99 alleles, evenly distributed between the three HLA class I genes, 145 alleles being identified in total. These alleles were already known, named and deposited in the HLA database. The alleles form 316 different HLA A-B-C haplotypes, with each population having between 80 and 112 haplotypes. The four Iranian populations form a related group that is distinguished from other populations, including other Iranians. All four KIR ligands - the A3/11, Bw4, C1 and C2 epitopes - are well represented, particularly Bw4, which is carried by three high-frequency allotypes: HLA-A*24:02, HLA-A*32:01 and HLA-B*51:01. In the Lur and Kurd populations, between 82% and 94% of individuals have the Bw4 epitope, the ligand for KIR3DL1. HLA-B*51:01 is likely of Neandertal origin and associated with Behcet's disease, also known as the Silk Road disease. The Lordegan Lur have the highest frequency of HLA-B*51:01 in the world. This allele is present on 46 Lur and Kurd haplotypes. Present at lower frequency is HLA-B*51:08, which is also associated with Behcet's disease. In the four Iranian populations, 31 haplotypes encode both Bw4(+) HLA-A and Bw4(+) HLA-B, a dual combination of Bw4 epitopes that is relatively rare in other populations, worldwide. This study both demonstrates and emphasizes the value of studying HLA class I polymorphism at highest resolution in anthropologically well-defined populations.


Assuntos
Etnicidade , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Polimorfismo Genético , Receptores KIR/genética , Alelos , Bases de Dados Genéticas , Epitopos/química , Epitopos/imunologia , Expressão Gênica , Frequência do Gene , Genótipo , Antígenos HLA-A/classificação , Antígenos HLA-A/imunologia , Antígenos HLA-B/classificação , Antígenos HLA-B/imunologia , Antígenos HLA-C/classificação , Antígenos HLA-C/imunologia , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Irã (Geográfico) , Ligantes , Receptores KIR/classificação , Receptores KIR/imunologia , Análise de Sequência de DNA , Terminologia como Assunto
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