METHOD FOR DETERMINING MUTATION IN HUMAN GALACTOSE-1-PHOSPHATURIDYL TRANSFERASE GENES Q188R, RS75391579 Russian patent published in 2018 - IPC G01N33/50 C12Q1/68 

FIELD: biotechnology.

SUBSTANCE: invention relates to biotechnology. Invention is a method for determining mutation in the human galactose-1-phosphaturidyl transferase gene Q188R, rs35742686. Method can be used in the screening of carriage of monogenic diseases. Method involves removing melting curves with fluorescently labeled allele-specific oligonucleotide probes. Method uses an allele-shared pair of primers, fluorescence-labelled allele-specific oligonucleotide samples different for each allele and a general oligonucleotide labelled with a fluorescence extinguisher of the following nucleotide composition: GALT-s GGTCAGGAGGGAGTTGACTTGG; GALT-as CCACAGTGCTGGCTCAGACTCAGC; GALT-p1 CCACTGCCAGGTAAGG-FAM; GALT-p2 CACTGCCGGGTAAGG-VIC; GALT-p3 BHQ1-GTGTCAGGGGCTCCAGTGG-P, where FAM is the fluorescent dye FAM, VIC is the fluorescent dye VIC, BHQ1 means attached to 5'-bottom nucleotide dark fluorescence dampener. Take the sample to a homozygote or heterozygote for the given allele by analyzing the shapes of the DNA melting curves, namely, by the maximum of the first derivative of the fluorescence plots.

EFFECT: proposed invention makes it possible to carry out a determination in the human galactose-1-phosphaturidyl transferase gene mutation Q188R, rs35742686.

1 cl, 1 dwg, 1 tbl, 1 ex