NONUNIFORM RECOMBINATION WITHIN THE HUMAN BETA-GLOBIN GENE-CLUSTER

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  • 1 January 1984
    • journal article
    • research article
    • Vol. 36  (6) , 1239-1258
Abstract
Population genetic analysis of 15 restriction site polymorphisms demonstrates nonuniform recombination within the human .beta.-globin gene cluster. These DNA polymorphisms show 2 clusters of high nonrandom associations, one 5'' and another 3'' to the .beta.-globin structural gene, with no significant linkage disequilibrium between the 2 clusters. The 5''-and 3''-association clusters are 34.6 kilobases (kb) and 19.4 kb long, respectively, and are separated by 9.1 kb of DNA immediately 5'' to the .beta.-globin gene. For each of these 3 DNA regions, a relationship was observed between nonrandom associations and physical distance between the polymorphisms. This relationship differed for each of these regions. On the assumption that the effective population size (Ne) is 5000-50,000, the total recombination rate being 0.0017%-0.0002% in the 5'' cluster, 0.0931%-0.0093% in the 3''cluster, and 0.2912%-0.0219% in the 9.1-kb region between them was estimated. The .beta. cluster thus shows nonuniformity in recombination. The recombination rate in the 9.1-kb DNA segment is 3-30 times greater than expected and is thus a hot spot for meiotic recombination.