A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.
Allele alpha LELY is a low-expression allele of the erythroid spectrin alpha-gene. It carries mutations in exon 40 (alpha V/41 polymorphism) and intron 45, respectively, and is associated with partial skipping of exon 46. The latter phenomenon is thought to impair the recruitment of alpha-chains by beta-chains, and would eventually account for the low-expression character. When it occurs in trans to an alpha-allele responsible for hereditary elliptocytosis (alpha HE allele; alpha HE/alpha LELY diplotype), allele alpha LELY enhances the severity of elliptocytosis. Because allele alpha LELY is widespread, we anticipated that it would occasionally carry HE determinants. These variants of allele alpha LELY will be designated alpha HE-LELY allele. The HE component was the known alpha 28 Arg-->His mutation. This alpha HE-LELY allele was investigated within the alpha HE-LELY/alpha LELY diplotype, a diplotype not described before. Except for the neonatal period, the presentation was mild. In a consistent manner, the alpha LELY component in cis of the alpha HE mutation counteracted the like component in trans.
Randon
J
J
CNRS URA 1171, Institut Pasteur de Lyon, France.
Boulanger
L
L
Marechal
J
J
Garbarz
M
M
Vallier
A
A
Ribeiro
L
L
Tamagnini
G
G
Dhermy
D
D
Delaunay
J
J
D000483:Alleles; D001483:Base Sequence; D004612:Elliptocytosis, Hereditary / Q000235:genetics* / Q000473:pathology; D004912:Erythrocytes / Q000473:pathology; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D015183:Restriction Mapping; D013049:Spectrin / Q000235:genetics*
D013049:Spectrin