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A high-resolution recombination map of the human genome

Abstract

Determination of recombination rates across the human genome has been constrained by the limited resolution and accuracy of existing genetic maps and the draft genome sequence. We have genotyped 5,136 microsatellite markers for 146 families, with a total of 1,257 meiotic events, to build a high-resolution genetic map meant to: (i) improve the genetic order of polymorphic markers; (ii) improve the precision of estimates of genetic distances; (iii) correct portions of the sequence assembly and SNP map of the human genome; and (iv) build a map of recombination rates. Recombination rates are significantly correlated with both cytogenetic structures (staining intensity of G bands) and sequence (GC content, CpG motifs and poly(A)/poly(T) stretches). Maternal and paternal chromosomes show many differences in locations of recombination maxima. We detected systematic differences in recombination rates between mothers and between gametes from the same mother, suggesting that there is some underlying component determined by both genetic and environmental factors that affects maternal recombination rates.

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Figure 1: Sex-averaged recombination rate for chromosome 3.
Figure 2: Sex-specific recombination rates for chromosomes 1 and 7.
Figure 3: Comparisons of our order and the Santa Cruz orders for the April and August 2001 freezes of the draft sequence.

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Acknowledgements

The authors wish to extend their gratitude to the 869 individuals providing DNA to this study, the Human Genome Project for providing the draft human genome sequence, and J.L. Weber and his colleagues for constructing the Marshfield genetic map.

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Correspondence to Augustine Kong or Kari Stefansson.

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The authors are employed by deCODE genetics, and some of them own stock or stock options in the company.

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Kong, A., Gudbjartsson, D., Sainz, J. et al. A high-resolution recombination map of the human genome. Nat Genet 31, 241–247 (2002). https://doi.org/10.1038/ng917

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