appearance of anaphylaxis
A rather rare hereditary disease characterized by the fact that a patient accumulates fats of a certain type in the cells of bones and internal organs – glucocerebrosides. Gaucher disease is a rare disease, it occurs in one of 40-100 thousand. But in closed ethnic communities in which kinship is common, cases of the disease can be an order of magnitude more.
The “culprit” of this pathology is a mutated gene responsible for the activity of the enzyme that breaks down fats (lipids) of glucocerebrosides. As a result, these unprocessed lipids accumulate in the cells of various organs. Hence the second name of the disease – glucocerebroside lipidosis. Continue reading
The fact that a woman’s age affects the future baby, the risk of developing pathologies in him, is known to many: when a pregnant woman is older than 35 years old, the probability of mutations in the fetus increases. But it turns out that the age of the father also matters for the health of the child.
Probability of conception
Men, unlike women, can become fathers at any age – their sperm production does not stop over the years. But sperm quality is getting worse. Sperm motility is reduced, making it harder for them to reach the egg. Their endurance decreases, and the sperm cannot penetrate the egg shell. In addition, the muscles of the perineum become weaker and do not provide the necessary contractions of the penis. Continue reading
What the geneticist does
Medical genetics is a part of human genetics that studies diseases and pathologies caused by heredity. A genetic doctor studies hereditary diseases and the conditions under which a hereditary predisposition is realized. It does not cure any organ or system of the body, in its competence the identification of a disease associated with genetics, or the risk of its occurrence.
Tasks of genetics:
diagnose a disease due to heredity;
identify genetic pathologies of the fetus during pregnancy of the mother; Continue reading