Biopolym. Cell. 1990; 6(2):35-38.
Selection of optimal conditions for polymerase chain reaction for identification of mutations in 12th gene of human phenylalanine hydroxylase
1Nikolenko M. I., 1Arbuzova S. B.
  1. M. Gorky Medical Institute, Medical-Genetic Centre
    Donetsk, USSR


The conditions of the amplification procedure for region of gene of human phenylalanine hydroxylase with some PKU mutations were elaborated. Genomic DNA of PKU-palients was isolated from whole blood and from dry blood spots on filter paper. The concentration of EDTA must be low to prevent inhibition of the reaction. It is necessary to perform dot-hybridization of amplificational sample with mutant DNA-probes for identification of mutations and rapid carrier testing.


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