Genetic diseases

Pathological mutations of the gene level, which are inherited, characterize the genetic disease of man.

Scientists have established that the sex of an individual is determined by a chromosome set. Every normal person has two X and Y chromosomes. During pregnancy from the parents, the baby is transferred on one chromosome, which form a pair: XY is a boy, XX is a girl. The mother gives the fetus only to the X chromosome. The father can give the future heir one of the two chromosomes, which will determine the sex of the latter.

Investigating male infertility, scientists showed increased interest in the Y chromosome. A relationship was found between infertility and fetal mutation. Irreversible reactions occur on the Y-chromosome.

Genetic diseases are a risk factor for the occurrence of azoospermia, which is caused by a mutation of the Y chromosome.

Genetic diseases have been known for a long time. The reason for their occurrence became clear with the advent of the possibility to conduct research at the genetic level. Some diseases, for example, color blindness, are transmitted with the female chromosome. Only men can be sick.

Mental retardation and underdevelopment is also caused by gene mutations. Surely, many have heard of Down syndrome, Huntington's chorea or autism. A person can get sick in the age range from thirty to fifty only with Huntington's chorea. The remaining mentioned diseases can invade life from birth.

Certain substances that are not absorbed by the child's organism, contribute to the development of diseases. Rare genetic diseases, caused, for example, by insufficient intake of glucose or protein, can cause serious damage to the health of a small person. Therefore, it is necessary to make a children's menu with special care.

Modern medicine can identify cystic fibrosis already at the prenatal level. Such an opportunity became available due to clinical and chemical tests on the analysis of seven pairs of chromosomes, as well as in the search for mutant genes. This diagnosis is of exceptional importance for couples who want to have children.

Multifactorial genetic diseases are caused by a predisposition at the gene level. This group includes pathologies of cardiovascular and neuro-degenerative nature, pharmacogenomics and oncology.

A woman who suffers from a genetic disease should be under special control not only during her pregnancy, but also before and after. The disease may worsen due to pregnancy.

Physicians are able to carry out gene correction of the embryo. This allows redirecting the gene defective manifestations that cause Menkes syndrome, as well as diseases caused by breaking the splicing.

Diagnosis can prevent many genetic diseases. This is great news for all future parents. Genetic diagnostics and genotyping are carried out on special state-of-the-art equipment using molecular biology methods. The computer skips the results through a special program. New technologies allow us to base the genotyping, conducting a comparative analysis of the results.

Mutations that are of medical importance, or nucleotide polymorphisms, are collected in a separate database, and the most informative polymorphisms are compiled by groups.

Genetic diseases are determined most often by PCR and mass spectrometry. Human DNA is analyzed.

Modern medicine analyzes one hundred and fifty genetic mutations simultaneously. The analysis lasts only a few hours.

Works in the cloning theme open new horizons for science and medicine.