title: Direct measurement of the male recombination fraction in the human beta-globin hot spot.
abstract: Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was detected in an adjacent approximately 90 kb region that extends upstream of the beta-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 approximately 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.
authors.affiliation: Medical Research Council Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK. j.schneider@genaissance.com
authors.forename: Julie A
authors.initials: JA
authors.lastname: Schneider
authors.forename: Timothy E A
authors.initials: TE
authors.lastname: Peto
authors.forename: Reginald A
authors.initials: RA
authors.lastname: Boone
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Boyce
authors.forename: John B
authors.initials: JB
authors.lastname: Clegg
mesh_terms: D002681:China; D005060:Europe; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D013094:Spermatozoa
chemical_list: D005914:Globins