Identification of a recent recombination event within the human β-globin gene cluster

Abstract

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 β-globulin 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 β-globin gene cluster. Analysis of other DNA markers closely linked to the β-globin gene cluster - segment 12 of chromosome 11 (D11S12) and loci for insulin, the cellular oncogenic c-Ha-ras, and preproparathyroid hormone - confirmed that a crossover event must have occurred within the region of chromosome 11 between D11S12 and the β-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.