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Haplotype variation, recombination, and gene conversion within the turkey MHC-B locus.

机译:土耳其MHC-B基因座内的单倍型变异,重组和基因转化。

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The major histocompatibility complex (MHC) is a gene dense region with profound effects on the disease phenotype. In many species, characterizations of MHC polymorphisms have focused on identifying allelic haplotypes of the highly polymorphic class I and class II loci through direct immunological approaches such as monoclonal antibodies specific for the major antigens or indirectly through DNA sequence-based approaches. Invariably, these studies fail to assess the broader range of variation at the other loci within the MHC. This study examines variation in the turkey MHC by resequencing 15 interspersed amplicons ( approximately 14 kb) spaced across the MHC-B locus in a representative sampling of 52 commercial birds. Over 200 single nucleotide polymorphisms (SNPs) were identified with high levels of polymorphism (1 SNP/70 bp) and heterozygosity (average minor allele frequency of 0.15). SNP genotypes were used to identify the major haplotypes segregating in the commercial lines. Sequencing of the peptide binding region (PBR, exon 2) of the class IIB loci of select individuals identified 10 PBR alleles/isotypes among the major MHC haplotypes. Examination of pedigreed families provides direct evidence of gene conversion and recombination within the B locus. Results of this study demonstrate the MHC diversity available in commercial flocks and provide genomic resources for studying the effect of this diversity (alleles and/or haplotypes) on disease susceptibility and resistance.
机译:主要的组织相容性复合物(MHC)是一个基因致密区域,对疾病表型具有深远的影响。在许多物种中,MHC多态性的表征集中在通过直接免疫学方法(例如对主要抗原特异的单克隆抗体)或通过基于DNA序列的方法间接鉴定高度多态性I类和II类基因座的等位基因单倍型。这些研究总是无法评估MHC内其他基因座的更广泛变异范围。这项研究通过对52个商业鸟类的代表性样本中的MHC-B基因座上的15个散布的扩增子(约14 kb)进行重新测序,研究了土耳其MHC的变异。鉴定出超过200个单核苷酸多态性(SNP),具有高水平的多态性(1 SNP / 70 bp)和杂合性(平均次要等位基因频率为0.15)。 SNP基因型用于鉴定在商业品系中分离的主要单倍型。选定个体IIB类基因座的肽结合区(PBR,外显子2)的测序确定了主要MHC单倍型中的10个PBR等位基因/同种型。对纯血统家族的检查提供了B位点内基因转化和重组的直接证据。这项研究的结果表明,商业羊群中存在MHC多样性,并为研究这种多样性(等位基因和/或单倍型)对疾病易感性和抗药性的影响提供了基因组资源。

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