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The Delta-Beta-Crossing-Over Site in the Fusion Gene of the Lepore-Boston Disease Might Be Localized in a Preferential Recombination Region
Author(s) -
Yahia Chebloune,
G Trabuchet,
Didier Poncet,
Michel CohenSolal,
Claudine Faure,
G. Verdier,
V. Nigon
Publication year - 1983
Publication title -
acta haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 56
eISSN - 1421-9662
pISSN - 0001-5792
DOI - 10.1159/000206910
Subject(s) - recombination , beta (programming language) , gene , genetics , biology , microbiology and biotechnology , computer science , programming language
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.

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