Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Prothrombin gene mutation uncommon in pulmonary embolism.

R E Kohlmeier1, C G Cho, R C Bux

  • 1Department of Pathology, University of Texas Health Science Center and Audie L. Murphy Veteran's Hospital, San Antonio 78284-7750, USA.

Southern Medical Journal
|November 30, 2000
PubMed
Summary

Genetic mutations in prothrombin and factor V genes are not common in individuals who die suddenly from pulmonary embolism. Routine testing for these inherited thrombophilias is not recommended for medical examiners.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Real-world treatment of chronic rhinosinusitis with dupilumab and omalizumab: results from the Korean National Health Insurance Service database.

Rhinology·2025
Same author

Health-related quality of life in Hymenoptera venom allergy: validation of the Italian version of the vespid allergy quality of life questionnaire (VQLQ-i).

European annals of allergy and clinical immunology·2024
Same author

Fracture Load of Molars Restored with Bulk-fill, Flowable Bulk-fill, and Conventional Resin Composite After Simulated Chewing.

Operative dentistry·2023
Same author

Assessment of Noninvasive Markers of Steatosis and Liver Fibrosis in Human Immunodeficiency Virus-Monoinfected Patients on Stable Antiretroviral Regimens.

Open forum infectious diseases·2022
Same author

Addressing high cervical cancer rates in the Rio Grande Valley along the Texas-Mexico border: a community-based initiative focused on education, patient navigation, and medical provider training/telementoring.

Perspectives in public health·2021
Same author

Early neurological manifestations of hospitalized COVID-19 patients.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2020

Area of Science:

  • Forensic pathology
  • Medical genetics
  • Cardiovascular research

Background:

  • Pulmonary embolism (PE) is a leading cause of sudden death in middle-aged adults.
  • Inherited thrombophilias, such as prothrombin gene mutation (G20210A) and factor V Leiden mutation (R506Q), increase venous thrombosis risk.

Purpose of the Study:

  • To determine the prevalence of prothrombin and factor V gene mutations in individuals who died from pulmonary embolism.
  • To assess the utility of routine genetic testing for these mutations in forensic pathology.

Main Methods:

  • Retrospective study of 67 autopsy cases of pulmonary embolism over 5 years.
  • Mutation analysis using polymerase chain reaction and allele-specific endonuclease digestion.

Main Results:

Related Experiment Videos

  • Prothrombin gene mutation found in 4% (3/67) and factor V gene mutation in 4% (3/66) of cases.
  • No significant difference in mutation prevalence compared to the general population.
  • Traditional risk factors for PE were present in 75% of individuals.

Conclusions:

  • Prothrombin and factor V gene mutations are infrequently associated with sudden death due to pulmonary embolism.
  • Routine genetic screening for these mutations is not warranted in medicolegal death investigations of PE.