Genetics. PCR. Lactose Metabolism (Determination of lactase deficiency)

• 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.

Lactase deficiency is one of the most common forms of metabolic disorders related to nutrition. It is a problem for many people around the world, especially among populations that have a genetic predisposition to this disease. An important understanding of lactase deficiency and methods for its diagnosis can help patients with proper nutrition and treatment.

Lactase deficiency: Genetic aspect

Lactase is an enzyme that breaks down lactose (milk sugar) into glucose and galactose, allowing the body to absorb these sugars through the intestinal wall. Most newborn babies have very high levels of lactase because it is needed to digest breast milk.

However, with age, lactase levels can decrease, and this can lead to lactase deficiency. The main cause of lactase deficiency is genetic, namely, changes in the gene that codes for lactase. In most cases, lactase deficiency is a consequence of a normal physiological process - lactase decreases after lactation, when the child switches to weaning.

Diagnosis of lactase deficiency

Diagnosis of lactase deficiency is an important step in determining the cause of a patient's gastrointestinal symptoms. One way to diagnose it is to use real-time PCR (PCR).

Real-time polymerase chain reaction (PCR) is a genetic analysis method that can determine the presence or absence of specific genetic mutations. To diagnose lactase deficiency, samples of the patient's DNA are used to identify genetic changes in the gene that codes for lactase.

Diagnosis of gastrointestinal diseases

Lactase deficiency is often accompanied by various gastrointestinal diseases, such as irritable bowel syndrome (IBS), chronic constipation, diarrhea, and inflammatory bowel diseases such as Crohn's disease and colitis. Diagnosis of these diseases can also use molecular genetic methods, including PCR.

To diagnose gastrointestinal diseases, laboratory tests can use blood, stool, and biopsy samples. Molecular techniques, such as PCR, can help identify specific mutations and genetic changes that are associated with these diseases.

Conclusion

Lactase deficiency and gastrointestinal diseases are serious medical problems that can affect the quality of life of patients. For their diagnosis and treatment, molecular methods, such as real-time PCR, are important tools. Understanding the genetic aspects of these conditions can help develop more effective treatment and diagnostic strategies, which makes patients' lives easier and ensures their well-being.