Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/5375
Title: Incidence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in the province of Denizli, Turkey
Authors: Keskin, Nazan
Ozdes, I.
Keskin, A.
Acikbas, I.
Bagci, H.
Keywords: 563T mutation
G6PD deficiency
PCR/RFLP
Turkey
glucose 6 phosphate dehydrogenase
primer DNA
adolescent
article
endemic disease
female
fluorescence
gene mutation
glucose 6 phosphate dehydrogenase deficiency
human
incidence
major clinical study
malaria
male
polymerase chain reaction
quantitative assay
restriction fragment length polymorphism
spectrophotometry
student
Turkey (republic)
nucleotide sequence
Adolescent
Base Sequence
DNA Primers
Female
Glucosephosphate Dehydrogenase Deficiency
Human
Incidence
Male
Humans
Abstract: Background: 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. Material/Methods: 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. Results: 24 of the subjects were found to be deficient in this enzyme, a frequency of 1.23%. Of 24 deficient subjects, 19 (79%) had the 563 T Mediterranean mutation. Conclusions: The frequency of G6PD enzyme deficiency appears 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 G6PD-563 T mutation in the Denizli region.
URI: https://hdl.handle.net/11499/5375
ISSN: 1234-1010
Appears in Collections:Fen-Edebiyat Fakültesi Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection

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