1. [Indirect molecular genetic predisposition factors to increased thrombosis in sufferers with mechanical lower limb trauma].
- Author
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Berezovskiy DP, Bachurin SS, Kolomoets IA, Skitovich AV, and Borschevskaya VN
- Subjects
- Humans, Genotype, Polymorphism, Single Nucleotide, Methylenetetrahydrofolate Reductase (NADPH2) genetics, Lower Extremity, Plasminogen Activator Inhibitor 1 genetics, Genetic Predisposition to Disease, Thrombosis genetics
- Abstract
The Aim of the Study: Was to selectively determine the occurrence frequency of polymorphic alleles in candidate genes of hereditary predisposition to increased thrombosis (T) in persons with mechanical trauma of musculoskeletal system (MS), who died from pulmonary artery thromboembolia (PATE). A total of 48 deaths from PATE cases of sufferers with MS trauma. The character of single nucleotide polymorphisms carriage (SNPC) in 13 candidate genes of hereditary predisposition to increased T (in genes, responsible for the synthesis of plasma proteins of the hemostatic system, platelet factors affecting tension of vessel wall and folate cycle) was determined. It has been established that the most common «mutant» alleles are found in PAI-1 -675 5G/4G, MTHFR 677 CT and MTRR 66AG genes, and in 87.8, 53.85 and 75.0% of the analysed cases, respectively. The consideration of SNP carriage character in the genes of predisposition to increased T is required for the full expert judgement on the causality between a mechanical trauma and PATE.
- Published
- 2023
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