Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

• Tipo: Artigo em Revista Científica Internacional
• Data: 2000

Autores

Costa, E (Autor) FFUP; Cabeda, JM (Autor) Outra; Vieira, E (Autor) Outra; Pinto, R (Autor) Outra; Pereira, SA (Autor) Outra; Ferraz, L (Autor) Outra; Santos, R (Autor) Outra; Barbot, J (Autor) Outra

Revista

Título: Blood

Vol. 95

ISSN: 0006-4971

Editora: Elsevier

Indexação

ISI Web of Knowledge - 16 Citações

Scopus - 17 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-001-0T8

Abstract (EN): Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is Variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I Variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (C) 2000 by The American Society of Hematology.

Idioma: Inglês

Tipo (Avaliação Docente): Científica