engleski

Glucose-6-phosphate dehydrogenase gene mutations in Dalmatia

High incidence og glucose-6-phospahte dehydrogenise (G6PD) deficiency is present in the Mediterranean area. The Mediterranean mutation (563 C-T) is responsible fir the vast majority (around 80%) of cases of severe G6PD deficiency in the Mediterranean basin.The aim of the present study was to deter4mine G6PD gene mutations in Dalmatia. Subjects: 53 persons of both sexes wit G6PD deficiency. Intervetions: DNA was extracted from peripheral blood anticoagulated with EDTA. DNA wsa analysed with PCR, SSCP and automated sequencing. Results:G6PD Mediterranean was found in 13 (24%), G6PD Union (1360 C-T) in 6 (11%), G6PD Seattle (844 G-C) in 5 (9%), G6PD Cassano in 2 (4%), G6PD Cossenza in 1 (2%). All G6PD Mediterranean had silent C-T nucleotide transition at the position 1311. Conclusion: The prevalence of The G6PD Mediterranean in Dalmatia is lower than in other Mediterranean populations. Relatively later migrations of Croats from the northern parts of Europe into this region could explain this unexpected finding.

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nije evidentirano