Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Azerbaijan Republic

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.