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Research Article Free access | 10.1172/JCI109357

Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.

F Ramirez, J G Mears, U Nudel, A Bank, L Luzzatto, G DiPrisco, R D'Avino, G Pepe, L Camardella, R Gambino, R Cimino, and N Quattrin

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Published April 1, 1979 - More info

Published in Volume 63, Issue 4 on April 1, 1979
J Clin Invest. 1979;63(4):736–742. https://doi.org/10.1172/JCI109357.
© 1979 The American Society for Clinical Investigation
Published April 1, 1979 - Version history
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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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