Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/57781
Type: Artigo de periódico
Title: Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants
Author: Hamel, AR
Cabral, IR
Sales, TSI
Costa, FF
Saad, STO
Abstract: To characterize the molecular variation in the glucose-6-phosphate dehydrogenase gene (G6PD), 196 asymptomatic and unrelated male G6PD-deficient blood donors from Belem, an Amazonian metropolis (Brazil), were analyzed. This deficiency was detected by horizontal agarose gel electrophoresis and quantitative spectrophotometric assay for enzyme activity. The mutations were searched by PCR/RFLP, SSCP, and direct DNA sequencing. The most frequent G6PD variant was the widespread and common G6PD A- (2026 --> A, 376A --> G) observed in 161 subjects (82.1%). Besides this, we found another form of G6PD A- (968T --> C, 376A --> G) in 14 (7.1%) individuals, G6PD Seattle (8446 --> C) in 4.6%, G6PD Santamaria (542A --> T, 376A --> G) in 2.5%, and G6PD Tokyo (12466 --> A) in one blood donor. Four novel variants were also identified: G6PD Belem (409C --> T; Pro137His), G6PD Ananindeua (376A --> G, 8716 --> A; Asn126Asp, Va1291Met), G6PD Crispim with four point mutations (3756 --> T, 3796 --> T, 383T --> C, and 384C --> T) leading to three amino acid substitutions (Met125Ile, Alal27Ser, and Leu128Pro), and G6PD Amazonia (185C --> A; Pro62His). The reported frequencies do not reflect the real values for blood donors from Belem, since an excess of individuals with "non A-" phenotype was included in this study to enhance the probability to find rare variants. Haplotype analyses were carried out for the less common G6PD variants identified in our study using PCR/RFLP for five polymorphic sites (FokI, PvuII, PstI, Bcl, NtaIII). G6PD Crispim and G6PD Amazonia variants presented the most common haplotype found in G6PD B (- - + - -). G6PD Belem presented two haplotypes (- - + + +, - + + + +) and G6PD Ananindeua was found with the + - + - + haplotype. The reported heterogeneity probably is due to the great miscegenation, characteristic of the population of the Amazonian region, besides the apparently common occurrence of recurrent mutations in the G6PD gene. (C) 2002 Elsevier Science (USA).
Subject: glucose-6-phosphate dehydrogenase
mutation
molecular polymorphism
haplotypes
G6PD Belnm
G6PD Ananindeua
G6PD Crispim
G6PD Amazonia
Brazil
Country: EUA
Editor: Academic Press Inc Elsevier Science
Rights: fechado
Identifier DOI: 10.1006/bcmd.2002.0524
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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