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Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association

2002-06-16Journal article Open access
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dc.contributor.authorRodrigues, M.O.
dc.contributor.authorFreire, A.P.
dc.contributor.authorMartins, G.
dc.contributor.authorPereira, J.
dc.contributor.authorMartins, M.C.
dc.contributor.authorMonteiro, C.
dc.date.accessioned2011-12-05T15:36:52Z
dc.date.available2011-12-05T15:36:52Z
dc.date.issued2002-06-16
dc.description.abstractGlucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. This deficiency in erythrocytes has a prevalence of 0.51 +/- 0.109 in the Caucasoid male population of Portugal. The frequency for deficiency-conferring genes is 0.39% in the Portuguese population. In the herein study populations males from areas of Portugal presenting with the highest prevalence of G6PD deficiency (Castelo Branco, Setúbal, Faro, and Lisbon) as well as similar subjects located in the border Center/North area of the country (Viseu) have been analyzed for biochemical parameters and screened for mutations and haplotype-associated mutations commensurate with G6PD deficiency. Six intragenic restriction fragment length polymorphisms (RFLPs) were studied: exon 5, nt 376 A -->G, FokI; intron 5, nt 611 C--> G, PvuII; intron 8, nt 163 C--> T, BspHI; exon 10, nt 116 G --> A, PstI; exon 11, nt 1311 C--> T, BclI; and intron 11, nt 93 T -->C, NlaIII. New haplotypes were constructed with the inclusion of intron 11, nt 93 T--> C, NlaIII, and only 5 of 64 possible haplotypes were found to show a marked linkage disequilibrium for several RFLPs and also for mutations and specific haplotypes. The control population (n = 168 males) presented the G6PD B variant and corresponded to haplotypes I (- - + + - -), Ia (- - + + - +), and VIIa (- - + + + +), in 91.8, 2.3, and 5.9%, respectively. The PCR and sequencing analysis of extracted DNAs from the deficient G6PD group showed 48.6% (16/33) of individuals with the G6PD A- mutation, corresponding to haplotype VIa (+ + - + - +); 9% (3/33) with the Betica mutation and 18% (6/33) with the Santa Maria mutation, both of them associated with haplotype IVa (+ - - + \- +); 6.1% (2/33) with the Mediterranean mutation associated with haplotype VIIa; 12.3% (4/33) with the Seattle mutation, 3.0% (1/33) with Gaohe mutation; and a new mutation, 3.0% (1/33), which we designated by G6PD Flores, all of them associated with haplotype I.por
dc.identifier.citationBlood Cells Mol Dis. 2002 Mar-Apr;28(2):249-59por
dc.identifier.issn1079-9796
dc.identifier.otherdoi:10.1006/bcmd.2002.0505
dc.identifier.urihttp://hdl.handle.net/10400.18/339
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevierpor
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S107997960290505Xpor
dc.subjectGlucose-6-phosphate dehydrogenase (G6PD) deficiencypor
dc.subjectPortuguese populationpor
dc.subjectG6PD haplotypespor
dc.subjectLinkage disequilibriumpor
dc.subjectG6PD epidemiologypor
dc.subjectPatologias do Glóbulo Vermelhopor
dc.titleGlucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype associationpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage259por
oaire.citation.startPage249por
oaire.citation.titleBlood Cells, Molecules and Diseasespor
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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