THE MOLECULAR-GENETIC ANALYSIS OF THE PHENYLKETONURIA IN ST.-PETERSBURG

Abstract

The investigation was performed in group of 70 patients with phenylketonuria of children, being registered in the dispanser of the medico-genetic consultation in St.-Petersburg, and the relatives of the first degree of affinity. In the group of 70 patients with phenylketonuria (PKU), living in St.-Petersburg, 10 different mutations of the PAG gene has been identified, which consists 90% of all mutant alleles. Detected has been a deletion of one nucleotide K363fs of two PKU-proband, not known earlier, in one Azerbaijan family, the method of its quick identification on the base of the restriction polymorphism has been offered. Coulping of the mutations with the VNTR-alleles (hypervariable 3'-not translated field of the PAG gene) has been characterized, which allows to make the conclusions, concerning the mechanisms of arising and spreading of the mutations. The obtained results allows to create the effective systems of the phenylketonuria prophylaxis is St.-Petersburg. The results of the given investigation can be used in the Medico-Genetic Consultations of St.-Petersburg, and in the scientific research Institutes, dealing with the problems of prophylaxis of the inherited pathologiesAvailable from VNTIC / VNTIC - Scientific & Technical Information Centre of RussiaSIGLERURussian Federatio