PANEL FOR DETERMINING PREDISPOSITION TO DEVELOPING DISORDERS OF STEROID HORMONE METABOLISM AND ITS USE Russian patent published in 2024 - IPC C12Q1/68 

Abstract RU 2816705 C1

FIELD: biotechnology; medicine.

SUBSTANCE: group of inventions relates to biotechnology and medicine, namely to endocrinology and genetics. Described is a panel for determining a predisposition to developing disorders of steroid hormone metabolism based on the use of a unique combination of genotypes of polymorphisms in genes of estradiol receptors (ESR1,2), progesterone (PGR), androgen receptor (AR), in genes of steroid hormone carrier proteins, as well as in genes of enzymes catechol-O-methyltransferase (COMT), sulphotransferase 2A1, and cytochrome CYP2C9 genes. Described is a method for determining predisposition to developing disorders of steroid hormone metabolism, involving the use of a panel. Combination of polymorphisms enables simultaneous detection of the most common polymorphisms, provides a more complete diagnostic coverage and does not miss possible changes in the genotype.

EFFECT: invention can be used to determine the probability of developing functional disorders of steroid hormone metabolism, aetiologically caused by various polymorphic variants in genes responsible for enzyme activity, which are involved in biosynthesis, intracellular action and utilization of steroid hormones, as well as in steroid hormone receptor genes and proteins providing steroid hormone transport.

2 cl, 18 tbl, 8 ex

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RU 2 816 705 C1

Authors

Malysheva Irina Nikolaevna

Bezrukov Vladislav Mikhailovich

Potapov Viktor Andreevich

Nizhnik Aleksandr Nikolaevich

Zolkina Irina Viacheslavovna

Dates

2024-04-03Published

2024-02-21Filed