Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.
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Huisman TH, Wilson JB, Gravely M, Hubbard M
Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.
Proc Natl Acad Sci U S A. 1974 Aug;71(8):3270-3.
- PubMed ID
- 4528583 [ View in PubMed]
- Abstract
A black 25-year-old woman and her father have a fast-moving alpha 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.