Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.
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.
D000328:Adult; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D002852:Chromatography, Ion Exchange; D002869:Chromosome Aberrations; D003434:Crossing Over, Genetic; D005260:Female; D005796:Genes; D005914:Globins / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000302:isolation & purification; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D005914:Globins