Linkage Disequilibrium in Humans: Models and Data
AUTOR(ES)
Pritchard, Jonathan K.
FONTE
The American Society of Human Genetics
RESUMO
In this review, we describe recent empirical and theoretical work on the extent of linkage disequilibrium (LD) in the human genome, comparing the predictions of simple population-genetic models to available data. Several studies report significant LD over distances longer than those predicted by standard models, whereas some data from short, intergenic regions show less LD than would be expected. The apparent discrepancies between theory and data present a challenge—both to modelers and to human geneticists—to identify which important features are missing from our understanding of the biological processes that give rise to LD. Salient features may include demographic complications such as recent admixture, as well as genetic factors such as local variation in recombination rates, gene conversion, and the potential segregation of inversions. We also outline some implications that the emerging patterns of LD have for association-mapping strategies. In particular, we discuss what marker densities might be necessary for genomewide association scans.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1226024Documentos Relacionados
- The Detection of Linkage Disequilibrium in Molecular Sequence Data
- Dynamics of the Linkage Disequilibrium Function under Models of Gene-Frequency Hitchhiking
- Linkage Disequilibrium in Growing and Stable Populations
- Linkage disequilibrium in human populations
- Linkage Disequilibrium in Subdivided Populations