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Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21

    • 1 Department of Molecular Genetics, Microbiology and Immunology, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway, New Jersey 08854, USA
    • 2 Department of Biometrics, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Piscataway, New Jersey 08854, USA
    • 3 Department of Computer Science, University of Maryland, Baltimore County, Baltimore, Maryland 21250, USA
    • 4 Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544, USA
    • 5 Department of Biomathematics, University of California Los Angeles School of Medicine, Los Angeles, California 90095, USA
Published December 29, 2005. Vol 16 Issue 2, pp. 208-214. https://doi.org/10.1101/gr.4641706
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cover of Genome Research Vol 36 Issue 5
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Abstract

Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.

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