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Am J Hum Genet. 2007 Mar;80(3):526-30. Epub 2007 Jan 23.

Polymorphic variation in human meiotic recombination.

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  • 1Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA. vcheung@mail.med.upenn.edu


In this study, our phenotype of interest is meiotic recombination. Using genotypes of approximately 6,000 SNP markers in members of the Centre d'Etude du Polymorphisme Humain Utah pedigrees, we found extensive individual variation in the number of female and male recombination events. The locations and frequencies of these recombination events vary along the genome. In both female and male meiosis, the regions with the most recombination events are found at the ends of the chromosomes. Our analysis also shows that there are polymorphic differences among individuals in the activity of the recombination "jungles"; these preferred sites of meiotic recombination differ greatly among individuals. These findings have important implications for understanding genetic disorders that result from improper chromosome segregation.

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