Related Experiment Video
Updated: Feb 14, 2026
07:00
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
10.4K
Polymorphisms of coagulation factor genes--a review
1Haematology Laboratory of the Coimbra University Hospital, Portugal. ferrerantunes@mail.telepac.pt
Clinical Chemistry and Laboratory Medicine
|January 23, 1999
Summary
Genetic variations in blood clotting factor genes influence thrombosis risk. This review examines key gene polymorphisms and their role in defining individual susceptibility to thrombotic and atherothrombotic diseases.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Genetic variations in coagulation factor genes can alter factor levels and function.
- These alterations are investigated for their potential to explain individual differences in thrombosis susceptibility.
Purpose of the Study:
- To review significant polymorphisms in genes encoding coagulation and fibrinolysis factors.
- To analyze these polymorphisms in relation to factor structure, function, and thrombotic risk.
Main Methods:
- Literature review of genetic polymorphisms in coagulation and fibrinolysis factors.
- Analysis of factor gene variants including fibrinogen, factor XIII, glycoprotein IIb/IIIa, von Willebrand factor, factors VII, VIII, IX, V, ATIII, protein C system, prothrombin, and PAI-1.
Main Results:
- Identified key polymorphisms in genes related to coagulation and fibrinolysis.
- Discussed the impact of these genetic variations on coagulation factor structure and function.
- Evaluated the proposed relevance of these polymorphisms for assessing thrombotic and atherothrombotic risk.
Conclusions:
- Common genetic variants in coagulation factor genes contribute to individual variability in thrombotic risk.
- Understanding these polymorphisms is crucial for defining susceptibility to thrombosis and atherothrombotic diseases.
Related Concept Videos
01:21Factors Affecting Dissolution: Polymorphism, Amorphism and Pseudopolymorphism
752
Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
Some polymorphic crystals possess lower aqueous solubility than their amorphous counterparts, leading to incomplete absorption. For instance, the oral suspension of Chloramphenicol, which...
Some polymorphic crystals possess lower aqueous solubility than their amorphous counterparts, leading to incomplete absorption. For instance, the oral suspension of Chloramphenicol, which...
752
01:06Coagulation
1.5K
Colloidal solids are solid particles suspended in solution. They are usually negatively charged, attracting a compact primary layer of positively charged ions, which attract more counterions to form an electrical double layer. Electrostatic repulsion between the charged double layers prevents the particles from colliding, stabilizing the colloids. These solids are often undesirable because they can contain toxins that are difficult to remove. Coagulation is a technique that helps aggregate and...
1.5K
01:09Coagulation
10.7K
The coagulation phase is a critical part of the body's process to prevent blood loss following injury to blood vessels. It involves chemical reactions that form a clot to seal the injured area. The clotting process begins shortly after injury, within 15-20 seconds for severe damage and 1-2 minutes for minor injuries.
During the coagulation phase, clotting factors, or procoagulants, play a vital role in initiating and progressing the coagulation cascade. This cascade is a series of reactions...
During the coagulation phase, clotting factors, or procoagulants, play a vital role in initiating and progressing the coagulation cascade. This cascade is a series of reactions...
10.7K
01:10Review and Preview
8.4K
In statistics, several tools are used to interpret the data. Measures of central tendency represent the characteristics of the data, such as mean, median, and mode. Additionally, measures of variance like standard deviation and range are used to find the spread of data from the mean. Relative standing measures the distance between data locations. Commonly used measures of relative standings are percentile, z score, and quartiles.
Percentiles are a type of fractile that partition data into...
Percentiles are a type of fractile that partition data into...
8.4K
01:13Review and Preview
11.6K
Data are individual items of information obtained from a population or sample. Data may be classified as qualitative (categorical), quantitative continuous, or quantitative discrete. Because it is not practical to measure the entire population in a study, researchers use samples to represent the population. A random sample is a representative group from the population chosen by using a method that gives each individual in the population an equal chance of being included in the sample. Random...
11.6K
02:16Transcription Factors
82.9K
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
82.9K