Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Vulliamy, Tom; D’Urso, Michele; Battistuzzi, G.; Estrada, Mario Pablo; Foulkes, Nicholas S.; Martini, Giuseppe; Calabrò, Viola; Poggi, Valeria; Giordano, Roberta; Town, Margaret

doi:10.1073/pnas.85.14.5171

Cited by 210 publications

(93 citation statements)

References 36 publications

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“…All patients with those mutations had favism and very low enzyme activity. The G6PD Mediterranean variant was initially described around the Mediterranean Sea but has since been described in different ethnic groups around world (Vulliamy et al 1988). It is interesting to emphasize that all individuals from our study with G6PD Mediterranean mutation had concomitant silent C fi T transition at the position 1311, which is often found in Europe but not in Asia (Terzic´et al 1998).…”

Section: Resultsmentioning

confidence: 85%

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

et al. 2005

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency protects from severe forms of malaria. It is interesting therefore to analyze the molecular basis underlying G6PD deficiency in regions such as the Mediterranean basin where malaria was present for a long time in history. Here we report on the genetic characterization of G6PD deficiency among inhabitants of one Mediterranean region-the Dalmatian region of south Croatia. We analyzed 24 unrelated G6PD-deficient male subjects. Molecular testing revealed several different mutations: G6PD Cosenza 9, G6PD Mediterranean 4, G6PD Seattle 3, G6PD Union 3, and G6PD Cassano 1. Furthermore, we have identified one novel G6PD variant that we named G6PD Split. This variant is caused by a nucleotide change 1442 C fi G leading to the amino acid substitution 481 Pro fi Arg and is characterized by moderate enzyme deficiency (class III variant). This study reveals a higher prevalence (37.5%) of the Cosenza mutation in the Dalmatian region than anywhere else previously investigated and overall shows the considerable molecular heterogeneity underlining G6PD deficiency that can be observed in Mediterranean populations.

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Section: Resultsmentioning

confidence: 85%

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

et al. 2005

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“…The NADPH/NADP ratio at the maximum tolerated oxidative load (v ox = max value) correlates with this ratio in the unstressed situation (v ox = 0). The group of chronic hemolytic anemia patients is clearly separated from the normal and nonchronic All data comes from Yoshida and Lin (1973); Vulliamy et al (1988); Beutler (1990); Au et al (2000); Fiorelli et al (2000). *Most, but not all of the A variants have an amino-acid 202 mutation; some have the second mutation at another site.…”

Section: G6pd Deficiencymentioning

confidence: 99%

In Silico Model-Driven Assessment of the Effects of Single Nucleotide Polymorphisms (SNPs) on Human Red Blood Cell Metabolism

Jamshidi

Wiback²,

Palsson³

2002

Genome Res.

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The completion of the human genome project and the construction of single nucleotide polymorphism (SNP) maps have lead to significant efforts to find SNPs that can be linked to pathophysiology. In silico models of complete biochemical reaction networks relate a cell's individual reactions to the function of the entire network. Sequence variations can in turn be related to kinetic properties of individual enzymes, thus allowing an in silico model-driven assessment of the effects of defined SNPs on overall cellular functions. This process is applied to defined SNPs in two key enzymes of human red blood cell metabolism: glucose-6-phosphate dehydrogenase and pyruvate kinase. The results demonstrate the utility of in silico models in providing insight into differences between red cell function in patients with chronic and nonchronic anemia. In silico models of complex cellular processes are thus likely to aid in defining and understanding key SNPs in human pathophysiology.

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“…Les autres mutants sont beaucoup plus rares. Depuis quelques années, le clo nage de l'ADNe de la G6PD a permis de déterminer la structure du gène et de préciser la séquence de la protéine [1][2][3]. Le gène compte 13 exons et code pour une protéine de 515 acides aminés [3].…”

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“…On a d'abord confirmé le fait, connu depuis longtemps par l'analyse de la protéine, que la forme A+ dérive de B+ par le remplacement d'une aspa ragine par un acide aspartique [4]. On a ensuite analysé une série de mutants, fréquents ou rares, dont les caractéristiques sont résumées dans le Ta bleau 1 [3,5,6]. De ce tableau, qui pourrait connaître une extension rapide, se dégagent quelques élé-ments essentiels : ( 1) les deux grands groupes, A et B, dérivent bien l'un de l'autre par une seule mutation, Asn -Asp, qui augmente la charge néga tive de la protéine-enzyme et rend compte de la migration électropho rétique plus anodique de la forme A. Chaque mutant présente une muta tion unique dans la séquence des acides aminés de B+, à l'exception de A-: celui-ci possède en effet à la fois la mutation caractéristique de A+ et une mutation supplémentaire ValMet.…”

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Génétique moléculaire des déficits en glucose-6-phosphate deshydrogénase (G6PD)

Dreyfus¹

1989

Med Sci (Paris)

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Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Abstract: Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1

Cited by 210 publications

References 36 publications

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

In Silico Model-Driven Assessment of the Effects of Single Nucleotide Polymorphisms (SNPs) on Human Red Blood Cell Metabolism

Génétique moléculaire des déficits en glucose-6-phosphate deshydrogénase (G6PD)

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