Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis.
A Calabrian family (Southern Italy) with Sp alpha(I/74) hereditary elliptocytosis (HE) in the heterozygous state was studied. Sp alpha(I/74) HE is associated with asymptomatic elliptocytosis, a defect in spectrin dimer self association and an increase of the alpha(I/74) kD fragment from the alpha chain after partial tryptic digestion of spectrin. To identify the underlying molecular defect, we analysed exons V, W, X, Y, Z of the beta gene and exon 2 of the alpha gene by single-strand conformational polymorphism (SSCP) of the amplification products. Direct DNA sequencing of the mutant exon showed a C-->G substitution at position 6284 of the beta gene. The corresponding substitution at the protein level was Arg-->Pro in the 2064 position of the beta-spectrin chain.
Qualtieri
A
A
Centro Studi della Microcitemia, Cosenza, Italy.
Pasqua
A
A
Bisconte
M G
MG
Le Pera
M
M
Brancati
C
C
D004247:DNA / Q000032:analysis; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013049:Spectrin / Q000235:genetics*
D013049:Spectrin; D004247:DNA