Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC
| Autor: | Hiroe Sato, Matt Neville, Jonathan Crawshaw, Sue Goldthorpe, Khoon-Lin Ling, Derek P. Jewell, K. Mulcahy-Hawes, Michael Bunce, Ken I. Welsh, Sara E. Marshall, Martin Barnardo, Tariq Ahmad, Alessandro Armuzzi, Robert Walton |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Linkage disequilibrium
Genotype Population Immunoglobulins Human leukocyte antigen Biology Antiporters Linkage Disequilibrium Major Histocompatibility Complex Gene mapping Genetic drift Genetics Humans Allele education Molecular Biology Genetics (clinical) Alleles Recombination Genetic education.field_of_study Polymorphism Genetic HLA-A Antigens Models Genetic Haplotype Chromosome Mapping Membrane Transport Proteins General Medicine Haplotypes Human genome |
| Popis: | Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manner. In 864 Caucasian unrelated individuals, we describe haplotype-specific LD patterns across the human MHC by the construction of gene-specific allelic haplotypes at 25 loci between HLA-A and Tapasin. Strong and extensive LD is found across both common and rare haplotypes, suggesting that haplotype structure is influenced by factors other than genetic drift, including both selection and differential haplotype recombination. Knowledge of haplotype-specific LD in the HLA may explain the apparent discrepant data from previous studies of global LD, help delineate key areas in mapping HLA-associated diseases and, together with recombination data, provide valuable information about a population's demographic history and the selective pressures operating on it. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|