FIELD: biotechnology.
SUBSTANCE: group of inventions relates to biotechnology and medicine, namely to endocrinology and genetics. Disclosed is a panel for determining a genetic predisposition to osteogenesis disorder. Panel includes means for detecting the following polymorphisms in a patient's sample: gene VDR: NC_000012.12:g.47845054C>A rs7975232 (ApaI is G/C-a, A/T-A) (frequency of variants 44/55); gene VDR: NC_000012.12:g.47844974A>G rs731236 (TaqI A/T – T, C/G – t ) (frequency of variants 61/38); gene VDR: NC_000012.12:g.47879112A>G rs2228570 (Fok I is C/G – F T/A – t) (frequency of variants 39/61); gene COL1A1: NC_000017.11:g.50203294G>A rs2412298; gene COL1A1: NC_000017.11:g.50200388C>A rs1800012 (frequency of variants 84/16); gene COL1A1: NC_000017.11:g.50203629A>G rs1107946 (frequency of variants 17/83); gene LRP5: NC_000011.10:g.68433827C>T rs3736228 (frequency of variants 86/14); gene CALCR: NC_000007.14:g.93426441A>G rs1801197 (frequency of variants 70/29); gene OPG (TNFRSF11B): NC_000008.11:g.118952749A>C (T245G) rs3134069 (frequency of variants 95/5); gene OPG (TNFRSF11B): NC_000008.11:g.118952831T>C (A163G) rs3102735 (frequency of variants 85/15); gene OPG (TNFRSF11B): NC_000008.11:g.118951813G>C (1181G > C) rs2073618 (frequency of variants 51/49); gene ALPL: NC_000001.11:g.21570274C>T (p.Val522Ala) rs1256328 (frequency of variants 83/17); gene ALPL: NC_000001.11:g.21570425G>A (c.862+51G>A) rs2275376 (frequency of variants 88/12). Disclosed is a method for determining a genetic predisposition to osteogenesis disorder, involving the use of said panel, wherein the presence of at least one of the polymorphisms determined by said panel indicates a genetic predisposition to osteogenesis disorder.
EFFECT: invention enables simultaneous detection of the most common polymorphisms, provides a more complete screening diagnostic coverage and allows not to miss possible changes in the genotype.
2 cl, 18 tbl, 8 ex
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