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Article

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

British journal of haematology - 1 Nov 1994

Randon J, Boulanger L, Marechal J, Garbarz M, Vallier A, Ribeiro L, Tamagnini G, Dhermy D, Delaunay J

Abstract excerpt

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...

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Identifiers

PMID: 7819065
DOI: 10.1111/j.1365-2141.1994.tb05070.x

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A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.PMID 7819065Read ↗

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

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

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 ↗

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

A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis.Semantic proximity Read ↗

A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.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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