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Human Molecular Genetics, 2002, Vol. 11, No. 3 207-215
© 2002 Oxford University Press

Direct measurement of the male recombination fraction in the human ß-globin hot spot

Julie A. Schneider+, Timothy E. A. Peto, Reginald A. Boone, Anthony J. Boyce1 and John B. Clegg

Medical Research Council Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK and 1Institute of Biological Anthropology, University of Oxford, 58 Banbury Road, Oxford OX2 6QS, UK

Recombination was measured across nine intervals in the human ß-globin gene cluster by single-sperm analysis. A recombination fraction of ~0.9% was calculated across an ~11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was detected in an adjacent ~90 kb region that extends upstream of the ß-globin cluster. These data are consistent with previous estimates based on population genetic analysis, and suggest a recombination rate of nearly two orders of magnitude greater than the genome average of ~1 cM/Mb. Because recombination hot spots will destroy linkage disequilibrium across small physical regions, knowledge about the location and strength of such hot spots could be extremely valuable for genetic association studies.

+ To whom correspondence should be addressed at present address: Genaissance Pharmaceuticals, Five Science Park, New Haven, CT 06511, USA. Tel: +1 203 786 3516; Fax: +1 203 562 9377; Email: j.schneider@genaissance.com


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