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Science 21 December 1984:
Vol. 226. no. 4681, pp. 1449 - 1451
DOI: 10.1126/science.6505702
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Articles

Science, Vol 226, Issue 4681, 1449-1451
Copyright © 1984 by American Association for the Advancement of Science

articles

Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome

SA Liebhaber, EF Rappaport, FE Cash, SK Ballas, E Schwartz, and S Surrey

Genetic analysis of an individual expressing an unexpectedly high level of hemoglobin I, an alpha-globin structural mutant, reveals that the mutation is present at both the alpha 1- and the alpha 2-globin gene loci. Kindred analysis confirms that the two affected genes are located in cis. The most likely explanation for this finding is that a recent conversion event occurred within the human alpha-globin gene cluster.




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