An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.
The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin allele carried, in cis, the alpha V/41 polymorphism, a common polymorphism altering the peptide maps and associated with a low-expression level. This is the first report of the cis combination of an HE mutation and the alpha V/41 polymorphism. Presumably, such a combination accounts for the very low expression of the abnormal allele in the heterozygous state.
Dalla Venezia
N
N
CNRS URA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.
Wilmotte
R
R
Morlé
L
L
Forissier
A
A
Parquet
N
N
Garbarz
M
M
Rousset
T
T
Dhermy
D
D
Alloisio
N
N
Delaunay
J
J
D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007930:Leucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011392:Proline / Q000235:genetics; D013049:Spectrin / Q000235:genetics*
D013049:Spectrin; D011392:Proline; D007930:Leucine