G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype

Maria Domenica Cappellini, Maurizio Sampietro, Daniela Toniolo, Giovanni Carandina, Franco Martinez di Montemuros, Dario Tavazzi, Gemino Fiorelli

Research output: Contribution to journalArticle

Abstract

The cloning and sequencing of the normal glucose-6-phosphate dehydrogenase (G6PD) gene has led to the study of the molecular defects that determine enzymatic variants. In this paper, we describe the mutations responsible for the Ferrara I variant in an Italian man with a family history of favism, from the Po delta. Nucleotide sequencing of this variant showed a G→A mutation at nucleotide 202 in exon IV causing a Val→Met amino acid exchange, and a second A→G mutation at nucleotide 376 in exon V causing an Asn→Asp amino acid substitution. Although on the basis of its biochemical properties this variant was classified as G6PD Ferrara I, it has the same two mutations as G6PD A(-), which is common in American and African blacks, and as the sporadic Italian G6PD Matera. The mutation at nucleotide 202 was confirmed by NlaIII digestion of a polymerase chain reaction amplified DNA fragment spanning 109 bp of exon IV. The 109-bp mutated amplified sequence is not distinguishable from the normal sequence in single strand conformation polymorphism analysis.

Original languageEnglish
Pages (from-to)139-142
Number of pages4
JournalHuman Genetics
Volume93
Issue number2
DOIs
Publication statusPublished - Feb 1994

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Glucosephosphate Dehydrogenase
Phenotype
Nucleotides
Mutation
Exons
Favism
Amino Acid Substitution
African Americans
Organism Cloning
Digestion
glucose-6-phosphate dehydrogenase A-
Amino Acids
Polymerase Chain Reaction
DNA
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Cappellini, M. D., Sampietro, M., Toniolo, D., Carandina, G., di Montemuros, F. M., Tavazzi, D., & Fiorelli, G. (1994). G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype. Human Genetics, 93(2), 139-142. https://doi.org/10.1007/BF00210598

G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype. / Cappellini, Maria Domenica; Sampietro, Maurizio; Toniolo, Daniela; Carandina, Giovanni; di Montemuros, Franco Martinez; Tavazzi, Dario; Fiorelli, Gemino.

In: Human Genetics, Vol. 93, No. 2, 02.1994, p. 139-142.

Research output: Contribution to journalArticle

Cappellini, MD, Sampietro, M, Toniolo, D, Carandina, G, di Montemuros, FM, Tavazzi, D & Fiorelli, G 1994, 'G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype', Human Genetics, vol. 93, no. 2, pp. 139-142. https://doi.org/10.1007/BF00210598
Cappellini MD, Sampietro M, Toniolo D, Carandina G, di Montemuros FM, Tavazzi D et al. G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype. Human Genetics. 1994 Feb;93(2):139-142. https://doi.org/10.1007/BF00210598
Cappellini, Maria Domenica ; Sampietro, Maurizio ; Toniolo, Daniela ; Carandina, Giovanni ; di Montemuros, Franco Martinez ; Tavazzi, Dario ; Fiorelli, Gemino. / G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype. In: Human Genetics. 1994 ; Vol. 93, No. 2. pp. 139-142.
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