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Title: Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Azerbaijan Republic
Authors: Saltanat, Aghayeva
Ayaz, Mammadov
Arndt, Rolfs
Volha, Skrahina
Elkhan, Rasulov
Elvira, Guliyeva
Keywords: G6PD
biochemical polymorphism
enzyme preparation
abnormal variant gene
molecular-genetic analysis
amino acid
Issue Date: 2020
Publisher: Khazar University Press
Citation: Khazar Journal of Science and Technology
Series/Report no.: Vol. 4;№ 1
Abstract: Genetic screening of school children in Masalli region in Azerbaijan Republic identified 23 school children with G6PD enzyme activity different deficiency (from 0 up to 60% activity). Biochemical studies were done/performed for school children with activity efficiency on enzyme preparations from erythrocytes. As to WHO Guidelines, enzymatic preparations were related to the following classes: 2nd class – 13 boys, 3rd class – 6 school boys, 4th class – 4 of them. DNA molecular analysis, isolated from blood of the index patient, was classified as the 2nd class of G6PD enzyme deficiency and has shown the substitution of Guanine nucleotide with Adenine in position 1178. As a result of the mutation in protein in the position 393, substitution of amino acids Arginine with Histidine [G6PD,1178 (G-A) Arg393His] takes place.
ISSN: 2520-6133
Appears in Collections:2020, Vol. 4, № 1

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