Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Brazil

Saad, Sara T.O.; Salles, Tereza S.I.; Carvalho, Maria Helena; Costa, Fernando Ferreira

doi:10.1159/000154383

Cited by 23 publications

(30 citation statements)

References 9 publications

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“…Although the frequency of G6PD deficiency in the study group was almost twice that of the controls (7.4 vs. 3.7%), it did not reach statistical difference, probably due to the small sample size. The mutations studied for G6PD are the most frequent in our state (15), and the overall prevalence of the deficiency in our sample (5.2%) is consistent with the 7.8% previously described in our population (16)(17)(18)(19).…”

Section: Discussionsupporting

confidence: 91%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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Background: Jaundice is a physiological phenomenon; however, severe hyperbilirubinemia occurs in only 5 to 6% of the healthy newborn population. It has been suggested that genetic variation could enhance the risk of hyperbilirubinemia when coexpressed with other icterogenic conditions. Methods: The study included newborns with a gestational age of greater than 35 wk and weights greater than 2,000 g with indications for phototherapy. The polymorphisms from UGT1A1 (rs8175347), sLcO1B1 (rs4149056 and rs2306283), and sLcO1B3 (rs17680137 and rs2117032) were analyzed by capillary electrophoresis and hydrolysis probes. results: A total of 167 hyperbilirubinemic infants and 247 control subjects were enrolled. The gender, ABO incompatibility, birth weight, and gestational age differed between the groups, but the allelic and genotypic frequency of the polymorphisms from SLCO1B genes did not. In logistic regression, the ABO incompatibility, gestational age, and polymorphic T allele of rs2117032 remained in the model. The presence of this polymorphism seemed to provide protection from hyperbilirubinemia. The individuals who were homozygous for the G allele of rs2306283 and who were glucose 6-phosphatedehydrogenase deficient were more frequent among the cases. conclusion: Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.

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Section: Discussionsupporting

confidence: 91%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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“…Only the more severe forms of G6PD deficiency, the class I variants, produce chronic hemolysis [11,20]. The digestion of the proband's PCRamplified gDNA with the restriction endonuclease NlaII detected the 202 G!A mutation in the exon 4 of the G6PD gene and confirmed the African variant, the most frequent G6PD deficiency in the population of southeastern Brazil [11,21]. Thus, the chronic anemia of the proband could be explained in part by the association the recurrent severe infections and the African variant phenotype of G6PD deficiency.…”

Section: Discussionmentioning

confidence: 99%

“…Experiments compared assays in blood samples and cell lines obtained from the proband, one patient with X-linked chronic granulomatous disease [10], one patient with G6PD deficiency (African variant) [11], and healthy controls. Written informed consent was obtained prior to the study.…”

Section: Case Report and Human Subjectsmentioning

confidence: 99%

“…G6PD activity was assayed as the rate of reduction of NADP to NADPH, when erythrocyte or leukocyte lysates were incubated with glucose-6-phosphate, as originally described by Beutler [16] and modified by Saad [11]. Comparative studies included erythrocytes, neutrophils, mononuclear leukocytes, and EBV-transformed B lymphocytes.…”

Section: G6pd Studiesmentioning

confidence: 99%

“…The 202 G!A mutation was investigated by allele-specific oligomer hybridization, as described elsewhere [11], or by digestion of exon 4 of the G6PD gene with the restriction endonuclease NlaIII. The Mediterranean variant was investigated by digestion of exon 6 with the restriction enzyme MboII.…”

Section: G6pd Studiesmentioning

confidence: 99%

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Association of glucose‐6‐phosphate dehydrogenase deficiency and X‐linked chronic granulomatous disease in a child with anemia and recurrent infections

et al. 2004

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Patients with severe leukocyte G6PD deficiency may present with impairment of NADPH oxidase activity and a history of recurrent infections, mimicking the phenotype of chronic granulomatous disease. We report herein a child with recurrent infections who initially received the diagnosis of G6PD deficiency. His erythrocyte G6PD activity was reduced: 1.8 U/g Hb (normal: 12.1 ± 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed B-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 GfiA mutation, the A -variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. Sequence analysis of genomic DNA showed a 264 GfiA substitution at the 3¢ splice junction of gp91-phox exon 3. The cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable or nonfunctional mutant gp91-phox and to the phenotype of X-linked CGD. We propose that clinicians treating a patient with G6PD deficiency during a severe infection episode consider the possibility of temporary or permanent impairment of the phagocytes' microbicidal activity and the eventual association of G6PD deficiency and chronic granulomatous disease. Am. J. Hematol. 75:151-156, 2004. ª 2004

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Presence of allele αLELY in an Amazonian Indian population

Bassères¹,

Salles²,

Costa³

et al. 1998

Am. J. Hematol.

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Allele alphaLELY is a low-expression allele of the erythroid spectrin alpha-chain that is characterized by a C --> G mutation at position alpha1857 in exon 40 and a C --> T (nt -12) mutation in intron 45. This second mutation is probably responsible for the partial skipping of exon 46. This exon is essential for the nucleation of the alpha-chains by the beta-chains during erythropoeisis. Although allele alphaLELY remains asymptomatic in both heterozygotes and homozygotes, it enhances the expression of deleterious alpha-alleles that occur and, as such, has clinical importance. In this study, the frequency of allele alphaLELY was estimated in two ethnically different Brazilian populations: a random sample of blood donors from Campinas, a city located in São Paulo State, in the southeastern region of Brazil, and a sample of Parakanã Indians (Tupi tribe), a very isolated population with a high degree of inbreeding. The frequency of allele alphaLELY in the blood donor's sample (n = 54) was 24.1% whereas in the indigenous sample (n = 41), it was 15.9%. These frequencies were not significantly different at the 5% level (chi2 = 1.931). Similarly, when the frequencies of our samples were compared with those of the four ethnic groups studied by Maréchal et al. [Br J Haematol 90:553-556, 1995], no significant differences were found at the 5% level (chi2 = 6.686). These results suggest that allele alphaLELY is a very ancient allele since it occurs with a relatively uniform and high frequency in all human ethnic groups studied so far. These findings confirm the importance of allele alphaLELY in influencing the expression of deleterious alpha-spectrin alleles. To our knowledge, these are the first data concerning allele alphaLELY in native Americans.

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Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Brazil

Cited by 23 publications

References 9 publications

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

Association of glucose‐6‐phosphate dehydrogenase deficiency and X‐linked chronic granulomatous disease in a child with anemia and recurrent infections

Presence of allele αLELY in an Amazonian Indian population

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