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Synthesis of Haemoglobins specified by Allelic Genes in Human Heterozygotes

Abstract

THE differential expression of genes in higher animals is revealed by comparison of cells from different tissues; of different genetic loci within the same cell, and of products of allelic genes at the same locus. All these differences are manifested in human erythroid cells, for example: (a) erythroid cells, compared with cells from other tissues, synthesize mostly haemoglobin (Hb) A; (b) they synthesize Hb A at a much greater rate than Hb F and Hb A2 (all closely related proteins but different genetic loci are involved in their synthesis); (c) in heterozygous subjects they almost always synthesize more Hb A than abnormal haemoglobin, such as S or C1–3. The range of possible mechanisms underlying these various categories of differential gene expression is widest for (a) and narrowest for (c)4. Specifically, the greater amount of Hb A in A/S (or A/C) heterozygotes could be due to: (1) a different number of copies of the corresponding genes; (2) a different rate of transcription; (3) a different stability of the corresponding mRNA species5–7; (4) a different rate of translation. We have tested the third possibility.

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ESAN, G., ADESINA, T. & LUZZATTO, L. Synthesis of Haemoglobins specified by Allelic Genes in Human Heterozygotes. Nature New Biology 229, 143–145 (1971). https://doi.org/10.1038/newbio229143a0

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