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Tytuł oryginału: Incidence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in the province of Denizli, Turkey.
Autorzy: Keskin Nazan, Ozdes Ibrahim, Keskin Ali, Acikbas Ibrahim, Bagci Huseyin
Źródło: Med. Sci. Monitor 2002: 8 (6) s.CR453-CR456, tab., bibliogr. 21 poz.
Sygnatura GBL: 313,278

Typ dokumentu:
  • praca epidemiologiczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dzieci 13-18 r.ż.
  • płeć męska
  • płeć żeńska

    Streszczenie angielskie: G6PD deficiency is a widespread abnormality of glucose-6-phosphate dehydrogenase, a red cell enzyme, which gives rise to hemolysis under oxidative stress. In Turkey, G6PD deficiency has a variable frequency in different regions. The prevalence and genotypes of G6PD deficiency are not known in Denizli province of the Aegean region of Turkey. Accordingly, this study was designed to investigate the prevalence of enzyme deficiency and the distribution of the Mediterranean mutation of G6PD in this region. A total of 1950 students (918 females, 1032 males, ages between 14 and 17) were screened by the Fluorescent Spot Test, and the G6PD deficiency was confirmed by quantitative spectrophotometric assay. The G6PD deficient subjects were further analyzed by the PCR/RFLP technique to identify the presence of the 563 T Mediterranean mutation. 24 of the subjects wre found to be deficient in this enzyme, a frequency of 1.23 p.c. Of 24 deficient subjects, 19 (79 p.c.) had the 563 T Mediterranean mutation. The frequency of G6PD enzyme deficiency apperars to be low compared with those found in the malaria-endemic Mediterranean region of Turkey. The molecular pathology of G6PD deficiency is related to the G5PD-563 T mutation in the Denizli region.

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