Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia.
BACKGROUND
Glucose-6-phosphate dehydrogenase (G6PD; E.C.1.1.1.49) deficiency is the most common human enzymopathy; nearly 400 different biochemical variants of the enzyme have been described. Sardinia is the Italian region with the highest frequency of this defect.


METHODS
We examined genomic DNA of 16 subjects with G6PD Mediterranean, 2 with G6PD Athens-like, 1 with G6PD Ferrara 2 (all as biochemically defined).


RESULTS
All G6PD Mediterranean subjects had a C-->T mutation at nucleotide 563 and a C-->T transition at nucleotide 1311; G6PD Athens-like and Ferrara 2 subjects had a G-->C mutation at nucleotide 844 (the same mutation has been found in G6PD Seattle-like).


CONCLUSIONS
This study suggests that in Southern Sardinia G6PD mutations are relatively homogeneous and that the results of biochemical characterization studies must be carefully evaluated, because the same mutations might be responsible for different biochemical behavior.
Frigerio
R
R
Research Institute on Thalassemias, Italian National Research Council, Cagliari.
Sole
G
G
Lovicu
M
M
Passiu
G
G
D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D010641:Phenotype
D005954:Glucosephosphate Dehydrogenase