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Science 15 January 1971:
Vol. 171. no. 3967, pp. 182 - 185
DOI: 10.1126/science.171.3967.182
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Articles

Silent Hemoglobin Alpha Genes in Apes: Potential Source of Thalassemia

Samuel H. Boyer 1, Andrea N. Noyes 1, George R. Vrablik 1, Lois J. Donaldson 1, Edward W. Schaefer Jr. 1, Clinton W. Gray 2, and Theodore F. Thurmon 3

1 Division of Medical Genetics and Clayton Laboratories, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
2 National Zoological Park, Smithsonian Institution, Washington, D.C. 20009
3 Department of Pediatrics, Louisiana State University School of Medicine, New Orleans, Louisiana 70112

Small quantities of unusual hemoglobins were found in 1 of 37 chimpanzees and 2 of 6 gorillas. In each genus these hemoglobins contain unique agr chains that differ from the ordinary by eight to nine scattered amino acid changes. The unusual chains arise from a hitherto undetected hemoglobin 3agr locus. No 3agr products are found in most apes; accordingly, 3agr is considered synthetically inactive in all but a few reversion mutants. Indirect evidence that the inactive 3agr locus is juxtaposed to an active agr locus together with the supposition that 3agr exists in man provides a setting wherein thalassemia might be produced by nonhomologous recombination between two loci.

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Science. ISSN 0036-8075 (print), 1095-9203 (online)