Genetics is a science that studies such properties of living organisms as heredity and variability. As you know, the main property of living nature that distinguishes it from nonliving nature is the ability to reproduce. Another important quality, called heredity, consists in repeatability, i.e., the ability to give birth to oneself. On average, representatives of any species are more similar to their native ancestors than to other individuals of the same species.
But at the same time, each species has a certain level of variability, because even siblings are not exact copies. Both of these factors - heredity and variability - are studied by the biological science of genetics, which, in turn, consists of general and private sections. If the subject of study of the general sections of genetics is the study of the foundations of heredity, the analysis of DNA molecules, the structure of genes and their mutations, then the private sections are devoted to the identification of general patterns in different types of living organisms.
Human genetics - leading from private sections. Those areas that relate to individual pathologies are studied by medical genetics. The main task of this branch of science is to identify the role of the genetic component in the occurrence and course of various diseases.
Diseases studied by medical genetics are divided into hereditary and multifactorial diseases. The first includes chromosomal (caused by a change in the number of chromosomes or their structure) and gene (due to gene mutations) diseases. If a mutation is present in only one gene, such a disease is called monogenic.
Multifactorial diseases are called ailments to which there is a hereditary predisposition. This includes most of the known diseases of the individual. The appearance of such diseases in humans, in addition to adverse external influences, is exerted by the state of many genes, which can be in the tens or hundreds.
Medical genetics as a science is designed to diagnose hereditary diseases, analyze their prevalence in different social and ethnic groups, advise patients and their families, prevent hereditary ailments, and study the basics of their pathogenesis and etiology.
For the prevention of hereditary diseases, clinical genetics uses the basis of prenatal (i.e., prenatal) diagnosis. The task of physicians is the timely identification of all possible pathogenic factors and the assessment of the degree of risk of certain diseases in the future baby, based on the health status of potential parents. Therefore, it is especially important for a couple expecting a baby or just planning to conceive, to undergo a detailed examination of their own health status and identify all risk factors. Including it is important to know and inform doctors about the hereditary diseases in the family (both through the future father and the mother), etc.
In civilized countries, genetics and medicine function inextricably. Interested in the health of the future spouse (wife) and the presence of hereditary diseases in the family long before marriage. In some countries, a medical certificate is a mandatory document for registration of marriage.
In recent years, medical genetics has made a real breakthrough in its development. The main success was the decoding of the structure of the human genome, the identification of all genes and the determination of the molecular nature of most proteins. Now scientists are actively studying the relationship of different genes with specific diseases, which in the future promises the development of fundamentally new methods of treating hereditary diseases and preventing the development of those diseases to which a person is predisposed.
The task of any qualified doctor is the timely identification of a patient with a pathology of a hereditary nature, determination of its nature and referral of the patient to the appropriate medical genetic center.