FIELD: chemistry; biochemistry.
SUBSTANCE: invention relates to molecular biology and can be used in medical practice when diagnosing hereditary hemochromatosis. The method involves carrying out allele- specific polymerase chain reaction (PCR) in the presence of Sybr Green l dye in which mutant and normal alleles are obtained in different reaction vessels, and determination of the end product through analysis of amplicon temperature dissociation curves.
EFFECT: simple method for simultaneous identification of three main mutations (S65C, H63D, C282Y) in the HFE gene associated with development of hereditary hemochromatosis and polymorphism 2 EX +4T→C, used as additional monitoring of the presence of S65C and H63D mutations.
11 dwg, 11 ex
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