Human globin gene analysis for a patient with beta-o/delta beta-thalassemia.

S Ottolenghi; W G Lanyon; R Williamson; D J Weatherall; J B Clegg; C S Pitcher

doi:10.1073/pnas.72.6.2294

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Human globin gene analysis for a patient with beta-o/delta beta-thalassemia.

S Ottolenghi·W G Lanyon·R Williamson·D J Weatherall·J B Clegg·C S Pitcher

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Abstract

Complementary DNA (cDNA) was prepared with RNA-dependent DNA polymerase from human globin messenger RNA (mRNA). Annealing and translation experimenta with total mRNA from circulating cells from a patient with heterozygous beta/heterozygous beta-delta-o thalassemia (beta-o/delta beta-o-thalassemia) demonstrated no detectable mRNA for beta-globin. cDNA enriched in sequences homologous to beta-globin mRNA was prepared by hydroxylapatite fractionation of hybrids formed between beta-o/delta beta-o-thalassemic mRNA and cDNA made from mRNA from a patient with alpha-thalassemia (hemoglobin H disease). The rate of annealing of this beta-enriched cDNA to normal human nuclear DNA was that of a sequence present as only a single copy per haploid genome. The beta-enriched cDNA annealed to the beta-o-delta beta-o-thalassemia total DNA with approximately the same kinetics as to normal DNA, indicating that no total gene deletion of beta-globin genes from the diploid genome has occurred, although the accuracy of the technique could not exclude with certainty a partial deletion or a deletion of a beta-globin gene from only one of the haploid genomes. This demonstrates that at least one of the beta-o- or the delta beta-o-thalassemia haploid genomes in this case contains a substantially intact beta-globin gene.

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S Ottolenghi, W G Lanyon, R Williamson, D J Weatherall, J B Clegg, C S Pitcher. 1975. Human globin gene analysis for a patient with beta-o/delta beta-thalassemia.. https://doi.org/10.1073/pnas.72.6.2294

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