The development of genetics over time has gone beyond the boundaries of purely scientific teaching and moved into a branch of practice. Many modern doctors use the data of genetic analyzes in order to make correct diagnoses, anticipate possible diseases and eliminate the factors that contribute to their development. To do this, the patient just needs to pass a genetic analysis, which will show a complete picture of predisposition to disease.
A few words about DNA
Deoxyfish nucleic acid (DNA) is a complex set of nucleotides that form chains - genes. It is this intracellular formation that carries the hereditary information received from parents and transmitted to children.
At the time of embryo formation, very rapid cell division takes place. At this stage, small failures occur, which are called gene mutations. They are what define a person's personality. Mutations can be either positive or negative.
Scientists were partially able to decipher the human genetic code. They know which genes cause diseases and which contribute to innate resistance to certain diseases. Geneticanalysis gives clinicians a picture of how best to treat a patient, given their predispositions.
Monogenic diseases and polymorphisms
Doctors recommend genetic testing for every person. It takes place once in a lifetime. Based on its results, a genetic passport is drawn up. It indicates all possible diseases and predisposition to them.
Congenital diseases include monogenic mutations. They arise as a result of changing one nucleotide in a gene to another. Often such replacements are completely harmless, but sometimes they can cause serious illness. These include, for example, phenylketanuria and muscular dystrophy.
Polymorphism is associated with the replacement of nucleotides in genes, but does not directly cause disease, but acts only as an indicator of predisposition to such diseases. Polymorphism is a fairly common occurrence. It occurs in more than 1% of individuals in the population.
The presence of polymorphism shows that under certain conditions and the influence of harmful factors, the development of a particular disease is possible. But this is not a diagnosis, but only one of the options. If you lead a he althy lifestyle, avoiding harmful factors, it is likely that the disease will never appear.
Prediction of congenital diseases
The development of modern genetics allows not only to ascertain the presence of congenital diseases or predisposition to them, but also to predict the he alth of unborn children. To do this, parents at the stage of pregnancy planning must pass a geneticanalysis. This is especially important if a parent already has complex illnesses.
This also applies to diseases that are transmitted genetically. Among them is hemophilia, which suffered from almost all the monarchical dynasties of Old Europe, where marriages were common to strengthen political ties.
Also, genetic analysis will show the predisposition of the unborn child to cancer, diabetes, hypertension, coronary heart disease. This is especially important if one of the future parents in the family had such diagnoses. Predisposition genes may be in a recessive (suppressed) state, but it is likely that they will appear in the future child.
Pregnancy tests
If at the time of planning a child it is recommended that parents be tested, then during pregnancy a genetic study of the fetus is carried out. For this purpose, amniotic fluid, cord blood or parts of the placenta are taken for analysis.
Such studies are necessary in order to determine the possibility of congenital diseases. These are completely unpredictable diseases that arise as a result of intrauterine mutations that cannot be foreseen in advance. Down's Syndrome is one of these diseases, when an extra chromosome appears in the fetus for some reason. The normal number for a person is 46 chromosomes, 23 pairs, one from father and mother. With Down Syndrome, the 47th unpaired chromosome appears.
Also genetic mutationspossible after suffering complex infectious diseases during pregnancy: syphilis, rubella. Based on the results of such an analysis, a decision to have an abortion can be made, since the unborn child will be completely unviable.
Women at risk
Of course, it would be better for every expectant mother to do an analysis for intrauterine diseases, but there are a number of indications for this procedure. First of all, it's age. After 30 years, the risk of developing pathologies in the fetus is always high. It also rises if there have been cases of miscarriage. In order to know about the danger already in the early stages, it is worth taking tests that show that everything is in order.
Pregnant women have both infectious diseases and injuries. They can also influence the course of fetal development. The earlier they occur, the greater the risk of dangerous mutations.
There is always a danger of improper development of the fetus, if at the time of conception or in the early stages after it, the mother fell under the influence of dangerous factors. These include alcohol, strong drugs, psychotropic substances, x-rays and other exposures.
And, of course, it's better to play it safe if the family already has one child with congenital pathologies.
Paternity test
There are situations in life when it is impossible to establish the paternity of a child. Or for some reason there are doubts that the father and the child, or the mother and the child are relatives. In this case, you can conduct a genetic blood test to determine family ties. The accuracy of such a study is more than 90%.
Yes, and the procedure itselfuncomplicated. It is enough just to donate blood of the parent and the child. By several indicators, it is easy to determine whether these two people have common genes.
Determination of paternity, as a rule, is used in forensic science to prove or disprove the need for alimony.
Predictive Medicine
Every year, doctors strive not to treat diseases, but to prevent them even before the first symptoms appear. As genetic analysis shows, this is not so difficult to do. Since by the genotype it is already possible to guess which diseases a person is most inclined to.
This direction is called predictive (predictive) medicine. Based on the genetic passport, the doctor determines the lifestyle of his patient, warning him of dangerous moments that can become a trigger for the development of a particular disease. It is much easier and cheaper than going through lengthy, and sometimes not very effective, therapy.
HIV/AIDS tests
Today, even HIV/AIDS tests are done through genetic testing. The procedure is not complicated, but it takes a long time to conduct the study. But the results of such an analysis are more accurate and revealing.
Many modern diagnostic centers do genetic analysis, the price of which is affordable for every average patient. It all depends on the goals: the cost varies from 300 rubles to tens of thousands. Therefore, there is no reason forto refuse to conduct such an informative study, especially if it can save the life of you and your children.
