Biopolymers and cell. 2001; 17 (6): 556 - 559

Molecular genetics analysis of mutations and minihaplotypes of the phenylalanine hydroxylase gene in Ukraine

M. V. Nechyporenko, S. A. Kravchenko, L. A. Livshits

445 persons (including 93 PKU patients) diagnosed in Ukraine neonatal screening program, 190 members of their families and 162 persons without PKU history in their families were examined for five mutations: R408W, R158Q, Y4J4C, IvslOnt546, JvsJ2ntJ. The most common mutation observed in the Ukrainian population is R408W (57,3 %). The allelic variations of the STR-polymorphism were analysed. 9 allelic variants of the STR-polymorphism and 24 STR/VNTR minihaplotypes were identified. The lack of equilibrium in the linkage between the mutation R408W and STR-allele 238 bp was found.