FIELD: biotechnology.
SUBSTANCE: invention relates to biotechnology and constitutes a method for identifying the p.Cys1079Gly and p.Cys1079Phe polymorphisms of the human copper-transporting ATPase. The method consists in genotyping the corresponding single-nucleotide polymorphisms in exon 14 of the human ATPase gene АТР7В (mutation missense) c.3235T>G and c.3236G>T by means of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) using a forward primer 5'-ACAAGACTGGCАССАТТАСССА-3' and reverse primer 5'-ACGCCCAAGTCCACGTAACTCTGTA-3.
EFFECT: present invention constitutes a simple method for identifying p.Cysl079Gly and p.Cysl079Phe polymorphisms of the human copper-transporting ATPase and can be used in medicine in diagnostics of a predisposition to the Parkinson's disease (PD) and Wilson's disease (WD) in order to select the predictive therapy.
1 cl, 2 dwg, 1 ex
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