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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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The Prothrombin 20209C>T Sequence Variant: To Test or Not to Test.

Denise I Quigley1, Jessica K Booker, Daynna J Wolff

  • 1Department of Pathology and Laboratory Medicine.

Journal of the Association of Genetic Technologists
|July 17, 2007
PubMed
Summary

A novel prothrombin gene mutation (20209C>T) was identified in African-American patients with thrombosis risk factors. Its clinical significance and prevalence remain unknown, warranting further investigation.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Thrombosis Research

Background:

  • The prothrombin gene (Factor II) 20210G>A mutation is linked to venous thrombosis risk.
  • Limited data exists on other prothrombin gene variants and their clinical impact.

Purpose of the Study:

  • To investigate an unidentified mutation in the prothrombin gene.
  • To explore the potential association of this variant with clinical conditions.

Main Methods:

  • Hybridization probe analysis using LightCycler for mutation screening.
  • Sequence analysis for variant confirmation.
  • Clinical data review of affected patients.

Main Results:

  • Seven patients with atypical melt curves were identified, all heterozygous for a prothrombin 20209C>T variant.
  • All identified patients were of African-American descent, suggesting a population-specific variant.
  • Clinical histories included stroke, renal failure, and recurrent pregnancy loss.

Conclusions:

  • The prevalence and clinical significance of the prothrombin 20209C>T mutation are currently unknown.
  • Conflicting functional study results highlight the need for further research.
  • The clinical utility of testing for this variant remains unresolved.