Identification of a recent recombination event within the human beta-globin gene cluster.
In a detailed study of inheritance of DNA sequence polymorphism in a large reference pedigree, an individual was identified with an apparent genetic recombination event within the human beta-globin gene cluster. Analysis of the haplotypes of relevant individuals within this pedigree suggested that the meiotic crossing-over event is likely to have occurred within a 19.8-kilobase-pair region of the beta-globin gene cluster. Analysis of other DNA markers closely linked to the beta-globin gene cluster--segment 12 of chromosome 11 (D11S12) and loci for insulin, the cellular oncogene c-Ha-ras, and preproparathyroid hormone--confirmed that a crossover event must have occurred within the region of chromosome 11 between D11S12 and the beta-globin gene cluster. It is suggested that the event observed has occurred within a DNA region compatible with recombinational "hot spots" suggested by population studies.
D000483:Alleles; D001483:Base Sequence; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic
D005914:Globins; D004262:DNA Restriction Enzymes