Hemoglobin Gun Hill: Deletion of Five Amino Acid Residues and Impaired Heme-Globin Binding
Authors:
- 29 September 1967
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 157 (3796) , 1581-1583
Abstract
Hemoglobin Gun Hill, a new variant of adult hemoglobin, was found in a Caucasian and one of his three daughters. The abnormal hemoglobin had only half of the expected number of heme groups. Five amino acid residues appeared to be missing from the β-globin chains. These residues occur in linear sequence in normal β-chains in a region involved in heme-globin binding. A deletion of five amino acids in the β-chains of hemoglobin Gun Hill is postulated. The most likely mechanism for the origin of such a hemoglobin variant would appear to be unequal crossing-over during meiosis.Keywords
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