Distribution of Recombination Crossovers and the Origin of Haplotype Blocks: the Interplay of Population History, Recombination, and Mutation

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2002 Oct 18

PMID 12384857

Citations 176

Authors

Ning Wang

Joshua M Akey

Kun Zhang

Ranajit Chakraborty

Li Jin

Affiliations

Soon will be listed here.

Abstract

Recent studies suggest that haplotypes are arranged into discrete blocklike structures throughout the human genome. Here, we present an alternative haplotype block definition that assumes no recombination within each block but allows for recombination between blocks, and we use it to study the combined effects of demographic history and various population genetic parameters on haplotype block characteristics. Through extensive coalescent simulations and analysis of published haplotype data on chromosome 21, we find that (1) the combined effects of population demographic history, recombination, and mutation dictate haplotype block characteristics and (2) haplotype blocks can arise in the absence of recombination hot spots. Finally, we provide practical guidelines for designing and interpreting studies investigating haplotype block structure.

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