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. 1974 Aug;71(8):3270–3273. doi: 10.1073/pnas.71.8.3270

Hemoglobin Grady: The First Example of a Variant with Elongated Chains Due to an Insertion of Residues

T H J Huisman *, J B Wilson *, M Gravely *, M Hubbard †
PMCID: PMC388666  PMID: 4528583

Abstract

A black 25-year-old woman and her father have a fast-moving α chain variant in an amount of 8% (the father) and 18% (the daughter). Structural data indicate that this chain has been elongated by the addition of three amino-acid residues to give the sequence: -Pro(114)-Ala(115)-Glu(116)-Phe(117)-Thr(118)-Glu-Phe-Thr-Pro(119)-Ala(120)-.The underlying genetic alteration responsible for hemoglobin Grady appears, therefore, to be a tandem duplication of nine base pairs which may have arisen by a process of mismatched intragenic crossing over. Functional and physicochemical properties of the variant are not greatly altered, and hematological data are normal.

Keywords: alpha chain, gene duplication, amino-acid sequence

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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