[Forensic medical evaluation of hereditary predisposition to thrombophilia in the case of thrombotic complications of a mechanical injury]

Sud Med Ekspert. 2014 Jan-Feb;57(1):22-5.
[Article in Russian]

Abstract

The objective of the present work was to develop the forensic medical criteria for the assessment of the significance of hereditary predisposition to thrombophilia in the case of thrombotic complications of a mechanical injury. The results of analysis of the frequency of genes responsible for hereditary predisposition to thrombogenesis (FII, FV, MTHFR, FGB, PAL-1) among the victims of mechanical injuries are presented. A total of 251 subjects were available for the examination. They were divided into 4 groups as follows: the subjects presenting with deep venous thrombosis in the lower extremities (DVTLE) after the injury (group 1), subjects with DVTLE without the preceding trauma (group 2), those with an injury to the locomotor apparatus without a subsequent thrombotic complication (group 3), and practically healthy persons (group 4). It was shown that the subjects of group I had the highest frequency of mutations and polymorphisms of MTHFR and PAl-1 genes. It is concluded that genetic typing for the detection of mutations in these two genes is indispensable for the subjects presenting with thrombotic complications after mechanical injuries to the locomotor organs.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Female
  • Forensic Genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Leg Injuries / complications*
  • Leg Injuries / surgery
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Middle Aged
  • Plasminogen Activator Inhibitor 1 / genetics
  • Polymorphism, Single Nucleotide
  • Postoperative Complications / etiology
  • Postoperative Complications / genetics*
  • Pulmonary Embolism / etiology
  • Pulmonary Embolism / genetics*
  • Venous Thrombosis / etiology
  • Venous Thrombosis / genetics*
  • Young Adult

Substances

  • Plasminogen Activator Inhibitor 1
  • SERPINE1 protein, human
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)