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Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome
Authors:S A Liebhaber  E F Rappaport  F E Cash  S K Ballas  E Schwartz  S Surrey
Abstract: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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