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  • Title: Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.
    Author: Ramirez F, Mears JG, Nudel U, Bank A, Luzzatto L, DiPrisco G, D'Avino R, Pepe G, Camardella L, Gambino R, Cimino R, Quattrin N.
    Journal: J Clin Invest; 1979 Apr; 63(4):736-42. PubMed ID: 438334.
    Abstract:
    Globin messenger RNA (mRNA) isolated from three patients homozygous for hemoglobin Lepore is shown to have a marked reduction of the amount of beta-like globin mRNA (Lepore-globin mRNA sequences) compared with alpha-globin mRNA by molecular hybridization. The relative amounts of alpha- and Lepore mRNA are similar to the amounts of alpha- and Lepore globin synthesized in intact cells and by isolated mRNA in a cell-free system. It is also demonstrated that Lepore-globin mRNA can completely hybridize to full-length or nearly full-length beta-globin specific complementary DNA and protect it from nuclease digestion, indicating close homology between the delta-mRNA sequences present in Lepore mRNA and the beta-complementary-DNA probe. We have also quantitated the numbers of beta-like globin gene sequences in genomic Lepore DNA by molecular hybridization and demonstrated a reduction in their number consistent with the Lepore gene being a delta beta-gene fusion product.
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