Hb F-Charlotte, an ^Aγ Variant with a Threonine Residue in Position γ75 and a Glycine Residue in Position γ136

D. Plaseska Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

F. Kutlar Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

J. B. Wilson Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

Y. J. Fei Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

T. H. J. Huisman Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

Abstract

Structural analyses of an abnormal y` chain, present in a relative amount of ∼10% in a cord blood sample of a Black newborn baby, identified two substitutions (γ75 lle←Thr and γ136 Ala←Gly) in an apparent variant of the ^Aγ chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal γ chain was indeed a variant of^Aγ with the two listed mutations.

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Hb F-Charlotte, an ^Aγ Variant with a Threonine Residue in Position γ75 and a Glycine Residue in Position γ136

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Hb F-Charlotte, an Aγ Variant with a Threonine Residue in Position γ75 and a Glycine Residue in Position γ136

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Hb F-Charlotte, an ^Aγ Variant with a Threonine Residue in Position γ75 and a Glycine Residue in Position γ136