Laboratório de Imunogenética e Histocompatibilidade - LIGH, Departamento de Genética, Centro Politécnico, Universidade Federal do Paraná - UFPR, Av. Coronel Francisco H. dos Santos, Jardim das Américas, CEP: 81530990, Caixa Postal 19071 Curitiba, Paraná, Brazil.
Hum Immunol. 2013 Dec;74(12):1619-23. doi: 10.1016/j.humimm.2013.08.005. Epub 2013 Aug 20.
The odorant receptor (OR) genes constitute the largest gene family among vertebrates. While over 800 loci are present in the human genome, their allele diversity is still poorly characterized. It has been hypothesized that the products of OR genes can be relevant in the reproductive context, thereby interacting with products of genes of the major histocompatibility complex (MHC). Here we investigated the genetic diversity of the OR2W6P, OR2B8P, OR1F12 and OR12D2 genes, in order to define haplotypes and haplotype frequencies. We measured levels of linkage disequilibrium (LD) between these OR genes and the MHC genes HLA-A, HLA-B and HLA-DRB1. This was accomplished through the assessment of 30 single nucleotide polymorphisms (SNPs) in samples from 61 family trios. We characterized 26 alleles among the four OR genes and identified three SNPs that had not yet been reported. Based on our haplotype analysis, LD spanning the OR-HLA region is not very strong, and therefore not enough to enable selection regarding specific HLA-OR haplotypes.
气味受体 (OR) 基因构成了脊椎动物中最大的基因家族。虽然人类基因组中有超过 800 个基因座，但它们的等位基因多样性仍未得到充分描述。有人假设 OR 基因的产物可能与主要组织相容性复合体 (MHC) 的基因产物有关，从而相互作用。在这里，我们研究了 OR2W6P、OR2B8P、OR1F12 和 OR12D2 基因的遗传多样性，以确定单倍型和单倍型频率。我们测量了这些 OR 基因与 MHC 基因 HLA-A、HLA-B 和 HLA-DRB1 之间的连锁不平衡 (LD) 水平。这是通过评估来自 61 个家族三胞胎的 30 个单核苷酸多态性 (SNP) 来完成的。我们在四个 OR 基因中鉴定了 26 个等位基因，并确定了三个尚未报道的 SNP。基于我们的单倍型分析，跨越 OR-HLA 区域的 LD 不是很强，因此不足以选择特定的 HLA-OR 单倍型。
