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Article

Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-gene.

British journal of haematology - 1 Jul 1995

Maréchal J, Wilmotte R, Kanzaki A, Dhermy D, Garbarz M, Galand C, Tang T K, Yawata Y, Delaunay J

Abstract excerpt

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...

Topics

Alleles
Asian People
Base Sequence
Black People
Erythrocytes
Exons
Gene Expression
Gene Frequency
Humans
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spectrin

White People

Source

Identifiers

PMID: 7646993
DOI: 10.1111/j.1365-2141.1995.tb05583.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7646993-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-gene.PMID 7646993Read ↗

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.Semantic proximity Read ↗

Presence of allele alphaLELY in an Amazonian Indian population.Semantic proximity Read ↗

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.Semantic proximity Read ↗

Mutation at position -12 of intron 45 (c-->t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alphaLELY in erythroid cells.Semantic proximity Read ↗

Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele.Semantic proximity Read ↗

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.Semantic proximity Read ↗

Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).Semantic proximity Read ↗

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.Semantic proximity Read ↗

The exon 46-encoded sequence is essential for stability of human erythroid alpha-spectrin and heterodimer formation.Semantic proximity Read ↗

Specific frequency distribution of erythrocytic X-protein alleles in indigenous sheep populations in East Asia.Semantic proximity Read ↗

Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus.Semantic proximity Read ↗

An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.Semantic proximity Read ↗

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