The delta-beta-crossing-over site in the fusion gene of the Lepore-Boston disease might be localized in a preferential recombination region.
The delta-beta-fusion gene of heterozygous Lepore-Boston patient contains a large intervening sequence (IVS2) which could derive entirely from the beta-gene. This conclusion was obtained using a specific beta-IVS2 probe to analyse the physical map of the Lepore-Boston DNA which has shown the presence of a specific beta-AvaII site at the 5' end of the delta-beta-Lepore fusion gene. Thus, the crossing-over between delta- and beta-globin genes to explain the delta-beta-Lepore recombination could be localized between the delta-codon 87 and the 5' end of the beta-IVS2. The second protein-encoding region might represent a preferential recombination position in disorders associated with structurally abnormal globin chains resulting from fusion genes.
D002459:Cell Fusion; D002648:Child; D003434:Crossing Over, Genetic; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D011995:Recombination, Genetic
D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston; D004247:DNA