S1-nuclease mapping of the genomic Lepore-Boston DNA demonstrates that the entire large intervening sequence of the fusion gene is of beta-type.
Several reports have suggested but not proven that the large intervening sequence of Lepore delta-beta fusion gene was of beta-type (3-5). A method able to detect rearrangements as small as 4 nucleotide pairs directly into genomic DNA (6) has been applied to the total DNA of a heterozygous Lepore-Boston patient in order to identify accurately the origin of the large intervening sequence of the delta-beta fusion-gene. Hybrid duplexes were formed between genomic Lepore DNA and single-stranded DNA used as probes, then submitted to S1-nuclease treatment. Our data demonstrate that the entire large intervening sequence of the Lepore fusion gene is of beta-type. Moreover, no large modification was detected in any delta- and beta parts of the delta-beta fusion gene.
D001483:Base Sequence; D055598:Chemical Phenomena; D002621:Chemistry; D002648:Child; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D004274:DNA, Recombinant / Q000302:isolation & purification; D004277:DNA, Single-Stranded / Q000302:isolation & purification; D004720:Endonucleases; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015719:Single-Strand Specific DNA and RNA Endonucleases
D004274:DNA, Recombinant; D004277:DNA, Single-Stranded; D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston; D005914:Globins; D004247:DNA; D004720:Endonucleases; D004262:DNA Restriction Enzymes; D015719:Single-Strand Specific DNA and RNA Endonucleases