Genetics. PCR. Folate cycle (Determination of genetic polymorphisms (MTHFR C677T and MTHFR A1298C) associated with folate cycle disorders)
1,150 UAH
Genetic research/Diagnosis of gastrointestinal diseases.
- Venous blood is donated for PCR testing and PCR genetics.
- Blood is collected on an empty stomach, after an overnight fast, or 8-12 hours after eating.
- On the day of blood donation, it is allowed to drink a small amount of pure water.
- 6-12 hours before the study, stressful situations should be avoided and physical activity should be limited.
- Avoid fatty foods, alcohol, and smoking.
- If possible, medication should be avoided.
- For infants – allow as long a gap between feedings as possible before handing over.
Folate cycle and genetic polymorphisms associated with folate cycle disorders in the diagnosis of gastrointestinal diseases using Real-time PCR technology
The folate cycle is an important biochemical process in the human body that plays a key role in DNA synthesis, regulation of amino acid metabolism, and maintenance of optimal levels of DNA methylation. The presence of genetic polymorphisms in genes encoding enzymes involved in the folate cycle can lead to disruptions in this important process.
Real-time PCR (real-time polymerase chain reaction) is a highly sensitive and accurate technique that allows the detection of genetic polymorphisms associated with the folate cycle and their association with the risk of developing gastrointestinal diseases.
One of the key enzymes in the folate cycle is methylenetetrahydrofolate reductase (MTHFR). The gene that encodes this enzyme has many genetic variants, but the most studied and important is the C677T polymorphism. This polymorphism can lead to a decrease in MTHFR activity and, as a result, to an increase in homocysteine levels in the blood. Homocysteine is an amino acid whose level in the blood is associated with the risk of developing various diseases, including diseases of the gastrointestinal tract.
Studies have shown that individuals with the homozygous C677T (TT) genotype are at increased risk of developing gastrointestinal diseases such as Crohn's disease and peptic ulcer disease. These individuals have elevated levels of homocysteine, which can contribute to inflammation and damage to the lining of the gastrointestinal tract.
Real-time PCR is an ideal method for determining the genetic status of the C677T polymorphism in the MTHFR gene. It allows detecting the presence of the T-allele, which is an alternative variant of the gene. Therefore, it is possible to carry out genetic screening and identify individuals at increased risk of developing gastrointestinal diseases.
To understand the increased risk of developing gastrointestinal diseases in individuals with the C677T polymorphism, it is important to consider the interaction of this polymorphism with other genetic and environmental factors, such as diet and lifestyle.
Real-time PCR studies can help doctors develop individualized approaches to the treatment and prevention of gastrointestinal diseases in patients with genetic risk factors. For example, patients with the C677T polymorphism may require a special diet or take folate supplements to lower homocysteine levels and reduce the risk of developing gastrointestinal diseases.
In conclusion, the folate cycle and genetic polymorphisms associated with it may play an important role in the development and diagnosis of gastrointestinal diseases. Real-time PCR allows for accurate determination of the genetic status of patients and the association between genetic polymorphisms and disease risk. This information may be useful for developing individualized treatment and prevention strategies for these diseases.
| Execution time |
1 day |
|---|---|
| Type of biomaterial |
Blood |
