title: Nonuniform recombination within the human beta-globin gene cluster.
abstract: Population genetic analysis of 15 restriction site polymorphisms demonstrates nonuniform recombination within the human beta-globin gene cluster. These DNA polymorphisms show two clusters of high nonrandom associations, one 5' and another 3' to the beta-globin structural gene, with no significant linkage disequilibrium between the two 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 three DNA regions, we have observed a relationship between nonrandom associations and physical distance between the polymorphisms. However, this relationship differed for each of these regions. On the assumption that the effective population size (Ne) is 5,000-50,000, we estimate the total recombination rate to be 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. The beta cluster thus shows nonuniformity in recombination. Moreover, 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.
mesh_terms: D000818:Animals; D044383:Black People; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005796:Genes; D005828:Genetics, Population; D005914:Globins / Q000235:genetics*; D006238:Haploidy; D006801:Humans; D051379:Mice; D011110:Polymorphism, Genetic; D044469:Racial Groups; D011995:Recombination, Genetic; D044465:White People
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes