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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.

Original publication

DOI

10.1093/hmg/11.3.207

Type

Journal article

Journal

Hum Mol Genet

Publication Date

01/02/2002

Volume

11

Pages

207 - 215

Keywords

China, Europe, Globins, Humans, Male, Polymorphism, Restriction Fragment Length, Recombination, Genetic, Spermatozoa