Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants.

To characterize the molecular variation in the glucose-6-phosphate dehydrogenase gene (G6PD), 196 asymptomatic and unrelated male G6PD-deficient blood donors from Belém, 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- (202G --> 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 (844G --> C) in 4.6%, G6PD Santamaria (542A --> T, 376A --> G) in 2.5%, and G6PD Tokyo (1246G --> A) in one blood donor. Four novel variants were also identified: G6PD Belém (409C --> T; Pro137His), G6PD Ananindeua (376A --> G, 871G --> A; Asn126Asp, Val291Met), G6PD Crispim with four point mutations (375G --> T, 379G --> T, 383T --> C, and 384C --> T) leading to three amino acid substitutions (Met125Ile, Ala127Ser, and Leu128Pro), and G6PD Amazonia (185C --> A; Pro62His). The reported frequencies do not reflect the real values for blood donors from Belém, 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, BclI, NlaIII). G6PD Crispim and G6PD Amazonia variants presented the most common haplotype found in G6PD B (- - + - -). G6PD Belém 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.

Adenosine deaminase isozyme variation inn Alouatta belzebul with review of data from other primates

Dados sobre os tipos de adenosina deaminase säo reportados em 1067 espécimes de Alouatta belzebul belzebul procedentes da regiäo do rio Tocantins, na Amazônia Brasileira. Oito fenótipos eletroforéticos foram observados, codificados provavelmente por 4 alelos. O grau de polimorfismo observado pode ser classificado como moderno. Dados da literatura indicam que cerca de 40% das espécies de macacos do Velho Mundo e 2 espécies do Novo Mundo säo monomórficas para este locus, e nas espécies ocorre variaçäo, 2-3 alelos säo observados. Em Alouatta belzebul o cromossomo Y está translocado para um autossomo. O locus ADA näo está em desequilíbrio de ligaçäo com os genes determinantes do sexo masculino, e portanto, ou este locus näo está localizado no autossomo indicado, ou está distante da regiäo na qual estes genes foram relocados