Pathological mutations of a genetic level, which are inherited, characterize human genetic diseases .
Scientists have found that the sex of an individual is determined by the chromosome set. Each normal person has two chromosomes X and U. During pregnancy, one chromosome is passed from the parents to the baby, which form a pair: XU - boy, XX - girl. The mother gives the fetus only the X chromosome. The father can give the future heir one of the two chromosomes, which will determine the gender of the latter.
Studying male infertility, scientists showed an increased interest in the U-chromosome. A connection was found between infertility and mutation of the fetus. Irreversible reactions occur precisely 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 ability to conduct research at the genetic level. Some diseases, such as color blindness, are transmitted with the female chromosome. Only men can be sick.
Mental retardation and underdevelopment are 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 diseases mentioned may invade life from birth.
Certain substances that are not absorbed by the child's body 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, you should make a children's menu with special care.
Modern medicine can detect cystic fibrosis already at the prenatal level. This possibility became available due to clinical and chemical tests on the analysis of seven pairs of chromosomes, as well as when searching for mutant genes. This diagnosis is extremely important for couples who want to have children.
Multifactorial genetic diseases are caused by a predisposition at the gene level. This group includes pathologies of the 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.
Doctors are able to carry out genetic correction of the embryo. This allows you to redirect the gene defective manifestations that cause Menkes syndrome, as well as diseases caused by splicing disorders.
Diagnostics can prevent many genetic diseases. This is great news for all expectant parents. Genodiagnosis and genotyping is carried out on special ultramodern equipment using molecular biology methods. The computer passes the results through a special program. New technologies make it possible to maintain a genotyping base by conducting a comparative analysis of the results.
Mutations of medical importance, or nucleotide polymorphisms are collected in a separate database, and the most informative polymorphisms are compiled into groups.
Genetic diseases are most often determined by PCR and mass spectrometry. Human DNA is being analyzed.
Modern medicine analyzes one hundred and fifty genetic mutations simultaneously. The analysis lasts only a few hours.
Cloning work opens up new horizons for science and medicine.