Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation

Ning Wang, Joshua M. Akey, Kun Zhang, Ranajit Chakraborty, Li Jin

Research output: Contribution to journalArticle

318 Scopus citations


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.

Original languageEnglish
Pages (from-to)1227-1234
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 1 Nov 2002


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