G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype.
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.
Cappellini
M D
MD
Istituto di Medicina Interna e Fisiopatologia Medica, Ospedale Maggiore Policlinico, Milano, Italy.
Sampietro
M
M
Toniolo
D
D
Carandina
G
G
Martinez di Montemuros
F
F
Tavazzi
D
D
Fiorelli
G
G
D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D005091:Exons; D005236:Favism / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry* / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D005954:Glucosephosphate Dehydrogenase