METHOD FOR SIMULTANEOUS DNA TESTING TO DETECT PRESENCE OF H63D AND C282Y POLYMORPHISMS IN HFE GENE ASSOCIATED WITH GENETIC HEMACHROMATOSIS Russian patent published in 2007 - IPC C12Q1/68 

Abstract RU 2304170 C1

FIELD: molecular biology, medicine.

SUBSTANCE: disclosed is improved method for simultaneous genetic typing of H63D and C282Y polymorphisms in HFE gene by using PCR method in real time with fluorescent detection. Claimed method includes a) step of reaction mixture containing no analyzed DNA preincubation at +4°C for at least 1 hour; b) application of "hot start" method to activate reaction and c) selection of optimal pairs of fluorescent dye/quenching agent, namely FAM and BHQ1 for normal variant 63H probe; R6G and BHQ1 for mutant variant 63D probe; ROX and BHQ2 for normal variant 282C probe; and Cy5 and BHQ3 for mutant variant 282Y probe. Claimed method is fully adapted to clinical application.

EFFECT: method with high specificity level.

10 dwg, 2 tbl 3 ex

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RU 2 304 170 C1

Authors

Samokhodskaja Larisa Mikhajlovna

Tkachuk Vsevolod Arsen'Evich

Bochkov Valerij Nikolaevich

Balatskij Aleksandr Vladimirovich

Makarevich Pavel Igorevich

Dates

2007-08-10Published

2006-02-08Filed