Utilize este identificador para referenciar este registo: http://hdl.handle.net/10451/21027
Título: Novel point mutation in Exon 12 of the glucose-6-phosphate dehydrogenase gene
G6PD flores
Autor: Rodrigues, MO
Pereira, JD
Gaspar, G
Olim, G
Martins, MDC
Monteiro, C
Palavras-chave: Medical Laboratory Technology
Data: 2004
Editora: WILEY-LISS
Citação: JOURNAL OF CLINICAL LABORATORY ANALYSIS. - Vol. 18, n. 2 (2004), p. 129-131
Resumo: In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( - - + + - -), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow. (C) 2004 Wiley-Liss, Inc.
URI: http://hdl.handle.net/10451/21027
DOI: http://dx.doi.org/10.1002/jcla.20010
ISSN: 0887-8013
Aparece nas colecções:FF - Produção Científica 2000-2009

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