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; N Quattrin

doi: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

Published April 1, 1979 - More info

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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.