Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195119
Type: Artigo de periódico
Title: Beta-spectrin São Pauloii, A Novel Frameshift Mutation Of The Beta-spectrin Gene Associated With Hereditary Spherocytosis And Instability Of The Mutant Mrna.
Author: Bassères, D S
Tavares, A C
Costa, F F
Saad, S T O
Abstract: Hereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS. beta-Spectrin-related HS seems to be common. We report here a new mutation in the beta-spectrin gene coding region in a patient with hereditary spherocytosis. The patient presented acanthocytosis and spectrin deficiency and, at the DNA level, a novel frameshift mutation leading to HS, i.e., a C deletion at codon 1392 (beta-spectrin São PauloII), exon 20. The mRNA encoding beta-spectrin São PauloII was very unstable and the mutant protein was not detected in the membrane or in other cellular compartments. It is interesting to note that frameshift mutations of the beta-spectrin gene at the 3' end allow the insertion of the mutant protein in the red cell membrane, leading to a defect in the auto-association of the spectrin dimers and consequent elliptocytosis. On the other hand, beta-spectrin São PauloII protein was absent in the red cell membrane, leading to spectrin deficiency, HS and the presence of acanthocytes.
Subject: Acanthocytes
Adult
Electrophoresis, Polyacrylamide Gel
Female
Frameshift Mutation
Humans
Pedigree
Polymerase Chain Reaction
Rna, Messenger
Reticulocytes
Spectrin
Spherocytosis, Hereditary
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/12185384
Date Issue: 2002
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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