The Delta-Beta-Crossing-Over Site in the Fusion Gene of the Lepore-Boston Disease Might Be Localized in a Preferential Recombination Region

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Abstract
The δ-β-fusion gene of a heterozygous Lepore-Boston patient contains a large intervening sequence (IVS2) which could derive entirely from the β-gene. This conclusion was obtained using a specific β-VS2 probe to analyse the physical map of the Lepore-Boston DNA which has shown the presence of a specific β-Avail site at the 5’ end of the δ-β-Lepore fusion gene. Thus, the crossing-over between δ- and β-globin genes to explain the δ-β-Lepore recombination could be localized between the δ-codon 87 and the 5′ end of the β-IVS2. The second protein-encoding region might represent a preferential recombination position in disorders associated with structurally abnormal globin chains resulting from fusion genes.