title: Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-gene.
abstract: Allele alpha LELY is a low-expression allele of erythroid spectrin alpha-chain. It carries mutations both in exon 40 and intron 45 and is associated with partial skipping of exon 46. Allele alpha LELY remains asymptomatic by itself. In contrast, it enhances the expression level of deleterious alpha-alleles occurring in trans, and as such has clinical importance. The aim of this study was to evaluate the incidence of allele alpha LELY in various ethnic groups, i.e. Caucasians, African Blacks, Japanese and Chinese. Allele alpha LELY occurred in all groups investigated with a fairly uniform frequency: 31%, 21%, 20% and 22%, respectively. Mutations in exon 40 and intron 45 appeared linked to one another without exception. Partial skipping of exon 46 or the low-expression feature, whenever they could be assessed, were invariably observed. Allele alpha LELY appears to be an ancient and stable allele.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, France.
authors.forename: J
authors.initials: J
authors.lastname: Maréchal
authors.forename: R
authors.initials: R
authors.lastname: Wilmotte
authors.forename: A
authors.initials: A
authors.lastname: Kanzaki
authors.forename: D
authors.initials: D
authors.lastname: Dhermy
authors.forename: M
authors.initials: M
authors.lastname: Garbarz
authors.forename: C
authors.initials: C
authors.lastname: Galand
authors.forename: T K
authors.initials: TK
authors.lastname: Tang
authors.forename: Y
authors.initials: Y
authors.lastname: Yawata
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D004912:Erythrocytes / Q000502:physiology*; D005091:Exons; D015870:Gene Expression; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D013049:Spectrin / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D013049:Spectrin