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

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Science  21 Dec 1984:
Vol. 226, Issue 4681, pp. 1449-1451
DOI: 10.1126/science.6505702


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.