engleski

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN DALMATIA

AIM: To determine the prevalence and genetic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dalmatia. MATERIALS AND METHODS: The fluorescent spot test was used to screen 2726 randomly selected high, male and female, school students in Dalmatia and 302 randomly selected males in the city of Komiža on the island of Vis. All positive samples were quantitatively measured using spectrophotometric method. Genetic analysis was performed on 24 unrelated G6PD-deficient male subjects. DNA was isolated from peripheral blood using standard extraction procedures. The entire coding region of the G6PD gene was amplified by PCR in nine fragments and analyzed by RFLP and SSCP as described previously. In order to determine the genetic change in samples that showed a shifted migration on SSCP gels, the relevant exon was re-amplified and sequenced. RESULTS: G6PD deficiency was found in 12 (0.44%) of the all school students samples. The incidence was 0.75% in males, and 0.14% in females. Of the all males tested in Komiža, 18 (5.96%) were G6PD deficient. Molecular testing revealed several different mutations: G6PD Cosenza 9(37.5%), G6PD Mediterranean 4(16.6%), G6PD Seattle 3(12.5%), G6PD Union 3(12.5%) and G6PD Cassano 1(4.2%). Furthermore, we have identified one novel G6PD variant that we named G6PD Split. This variant is caused by a nucleotide change 1442 C→G leading to the amino acid substitution 481 Pro→Arg, and is characterized by moderate enzyme deficiency. Three samples remained uncharacterized. All individuals with G6PD Mediterranean mutation had concomitant silent C→T transition at the position 1311 which is often found in Europe but not in Asia. CONCLUSIONS: The prevalence of G6PD deficiency in the Dalmatian population is 0.44%. The prevalence rate of G6PD deficiency in the males of Komiža, town on an isolated island in the Adriatic Sea, is significantly higher than in other parts of Dalmatia. In conclusion, our study has identified one novel variant, G6PD Split, and highlights the molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in the Dalmatia. The situation is rather unusual for countries in this region of the Mediterranean basin in that G6PD Cosenza, rather than G6PD Mediterranean, is the predominant variant.

glucose-6-phosphate dehydrogenase deficiency; prevalence; gene mutations; Dalmatia

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