MOLECULAR-GENETIC RESEARCH OF PHENYLKETONURIA IN AZERBAIJAN FAMILY

Phenylketonuria gene has an identified R261G (G-A) mutation. The study of erythrocyte enzyme preparation for family members have shown low electophoretic mobility for G6PD which was unknown in the world studies. A new biochemical variant was identified on the basis of physic-chemical indications of G6PD enzyme, and PKU inherited metabolic disease with R261G (G-A) mutation were found in the family G.M., who live in Tekle village of Masally area. Phenylketonuria and G6PD enzyme deficiency were identified in one family in Tekle village of Masally area of Azerbaijan Republic. Heterozygous and homozygous genetic types of phenylalanine-4-hydroxilase gene mutation R261G (G-A) were identified.A new unknown to scientific literature biochemical polymorphism of G6PD enzyme was identified.