Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/347
Título: Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES
Autor: Rodrigues, M.O.
Pereira, J.D.
Gaspar, G.
Olim, G.
Martins, M.C.
Monteiro, C.
Palavras-chave: Haplotype
Linkage desequilibrium
Azores
Portugal
Patologias do Glóbulo Vermelho
Data: 29-Mar-2004
Editora: Wiley Blackwell
Citação: J Clin Lab Anal. 2004;18(2):129-31
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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/347
ISSN: 0887-8013
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1002/jcla.20010/abstract;jsessionid=CEE4B645C6864185ED9DCE1CEB397BCA.d03t04?systemMessage=Wiley+Online+Library+will+be+disrupted+3+Dec+from+10-12+GMT+for+monthly+maintenance
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