engleski

ANALYSIS OF THE GLUCOSE-6-PHOSPHATE DEHYDROGENASE GENE IN THE REGION OF DALMATIA

Objective: Analyses of the glucose-6-phosphate dehydrogenase (G-6-PD) gene among the persons with low enzyme activity in tthe region of Dalmatia. Design and Methods: DNA of fifty-three persons of both sexes with G-6-PD deficiency were analysed with PCR, SSCP and automated sequencing. Results: G-6-PD Mediterranean was found in 13 (24%), G-6-PD Union in 6 (11%), G-6-PD Seattle in 5 (9%), G-6-PD Cassano in 2 (4%) and G-6-PD Cossensa in 1 (2%) persons. In 3 (6%) individuals SSCP shifts were observed in exons 2 and 10 but the underlining mutations are still anknown. Favism was present in 18 (34%) cases and favism associated with G-6-PD Cassano had not been described previously. All G-6-PD Mediterranean had silent C-T nucleotide transition at the position 1311. Conclusions: G-6-PD Mediterranean in the dalmatia region is lower than in other Mediterranean populations. Prevalence of other G-6-PD mutations is similar to those observed around the Mediterranean sea.

Glucose-6-phosphat dehydrogenase; gene; mutations; Dalmatia

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