Comparative Linkage-Disequilibrium Analysis of the β-Globin Hotspot in Primates

Recombination rates vary both across the genome and between different species, but little information is available about the temporal and physical scales over which such rates change. To shed light on these questions, we performed a high-resolution analysis of a genomic region within the β-globin gene cluster that is known to experience elevated recombination rates in humans. For this purpose, we developed new linkage disequilibrium–based methods that thoroughly search for subsets of the data with unusually high or unusually low estimated values of the population-recombination parameter (4Nr, where N is the effective population size and r is the crossover rate between adjacent base pairs). By resequencing a 15-kb segment in a human population sample, we were able to narrow the recombinational hotspot to a segment