FIELD: biotechnology.
SUBSTANCE: described is a method for identifying gene mutations and polymorphisms. Allele-specific PCR is carried out in presence of 35 types of primers corresponding to mutant and normal alleles of the ATP7B gene. 14 pairs of primers are aimed at detecting mutant sequences and 14 pairs of primers for detecting wild-type sequences, which enables to search for the most frequent ATP7B gene mutations occurring in exons 6, 8, 10, 12, 14 and 15. Use of these primers makes it possible to simplify the diagnosis of Wilson–Konovalov disease and increases the reliability of the obtained results, since it detects 14 most common mutations of this gene.
EFFECT: use of the method enables fast screening of ATP7B gene mutations for rapid diagnosis of Wilson–Konovalov disease.
1 cl, 5 dwg, 14 ex
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