Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.
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.
D001483:Base Sequence; D005796:Genes; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D011995:Recombination, Genetic
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D005914:Globins; C026236:hemoglobin I, non-mammalian