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Mutation and VNTR-polymorphism analysis of phenylalanine hydroxylase gene



Mutation and VNTR-polymorphism analysis of phenylalanine hydroxylase gene



Ukrainskii Biokhimicheskii Zhurnal 73(2): 63-67



The data on 5 PAH gene mutations analysis are presented. The most common mutation observed in Ukrainian population was determined to be R408W (66.6%). As well two minor mutations R158Q (2.5%) and Y414C (1.25%) were identified. The allelic variation of the VNTR-polymorphism in 470 healthy volunteers and 39 PKU-patients were analysed. 7 allelic variants and 15 haplotypes were found. The linkage disequilibrium was displayed between mutation R408W and VNTR-haplotypes 03. An advantages of molecular genetic analysis of mutations and VNTR-polymorphism for diagnosis of PKU in Ukraine are discussed.

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