Brasil | Artículos de revistas

Band 3tambaú: A De Novo Mutation In The Ae1 Gene Associated With Hereditary Spherocytosis. Implications For Anion Exchange And Insertion Into The Red Blood Cell Membrane.

dc.creatorLima, Paulo Roberto Moura
dc.creatorBaratti, Mariana Ozello
dc.creatorChiattone, Maria Lúcia
dc.creatorCosta, Fernando Ferreira
dc.creatorSaad, Sara Teresinha Olalla
dc.date2005-May
dc.date2015-11-27T13:02:00Z
dc.date2015-11-27T13:02:00Z
dc.date.accessioned2018-03-29T01:00:39Z
dc.date.available2018-03-29T01:00:39Z
dc.identifierEuropean Journal Of Haematology. v. 74, n. 5, p. 396-401, 2005-May.
dc.identifier0902-4441
dc.identifier10.1111/j.1600-0609.2004.00405.x
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/15813913
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/196218
dc.identifier15813913
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1296451
dc.descriptionHereditary spherocytosis (HS) is attributed to red blood cell membrane protein defects, caused by mutations in ankyrin, spectrin, band 3 and protein 4.2. In this study, the presence of band 3 mutations was investigated in a patient presenting mild HS and band 3 deficiency. Using single strand conformation polymorphism analysis, a shift in exon 16 of the band 3 gene was found. DNA sequencing revealed a point mutation 2102 T>C, changing methionine at position 663 to lysine. The M663K substitution was not found in either the parents or in the siblings, and the restriction fragment length polymorphism analysis of 100 alleles from a random Brazilian population did not reveal this mutation, suggesting that this gene defect is more likely to be a de novo mutation, causing HS. Flow cytometry of eosin-5-isothiocyanate (EITC)-labelled erythrocytes showed, in the patient, 54% of band 3 protein content vs. 78% based on the sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) analysis, suggesting that flow cytometry is a more sensitive method and may be used as a diagnostic tool in membrane disorders related to band 3 deficiency. The characterisation of novel AE1 mutations is helpful to improve the understanding of the role of band 3 protein in cell physiology.
dc.description74
dc.description396-401
dc.languageeng
dc.relationEuropean Journal Of Haematology
dc.relationEur. J. Haematol.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAnion Exchange Protein 1, Erythrocyte
dc.subjectChild
dc.subjectErythrocyte Membrane
dc.subjectExons
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation, Missense
dc.subjectNuclear Family
dc.subjectPolymerase Chain Reaction
dc.subjectPolymorphism, Restriction Fragment Length
dc.subjectSpherocytosis, Hereditary
dc.titleBand 3tambaú: A De Novo Mutation In The Ae1 Gene Associated With Hereditary Spherocytosis. Implications For Anion Exchange And Insertion Into The Red Blood Cell Membrane.
dc.typeArtículos de revistas


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