Genetics is a science that studies such properties of livingorganisms, as heredity and variability. As is known, the main property of living nature that distinguishes it from inanimate is its ability to reproduce. Another important quality, called heredity, is repetition, that is, the ability to give birth to their own kind. On average, representatives of any species are more similar to their ancestors than to other individuals of the same species.
But while each species has a certain levelvariability, because even siblings are not exact copies. Both these factors - heredity and variability - are studied by the biological science of genetics, which in turn consists of general sections and particulars. If the subject of studying the general sections of genetics are research on the basis of heredity, the analysis of DNA molecules, the structure of genes and their mutations, then private sections are devoted to the identification of general patterns in different species of living organisms.
Human genetics is the leading of the private sections.Those directions, which concern the pathology of the individual, study medical genetics. The main task of this branch of science is to reveal the role of the genetic component in the occurrence and course of various diseases.
Diseases that are studied by medical genetics,are divided into proper hereditary and multifactorial. The first include chromosomal (caused by a change in the number of chromosomes or their structure) and gene (due to gene mutations) disease. If the mutation is present only in one gene, such a disease is called monogenic.
Multifactorial refers to the ailments to whichthere is a hereditary predisposition. This can include most known diseases of the individual. The appearance of such diseases in humans, in addition to unfavorable external influence, is exerted by the state of many genes, which can be estimated in tens and hundreds.
Medical genetics as a science called upondiagnose hereditary diseases, analyze their prevalence in different social and ethnic groups, advise patients and their families, prevent hereditary ailments, and learn the basics of the pathogenesis and etiology of those.
For the prevention of hereditary diseasesClinical genetics uses the base of prenatal (i.e., prenatal) diagnosis. The task of physicians is the timely detection of all possible pathogenic factors and an assessment of the degree of risk of occurrence of certain diseases in the future baby, based on the health of potential parents. Therefore it is especially important for a couple expecting a child or just planning to conceive, undergo a detailed examination of their own health condition and identify all the risk factors. Including it is important to know and inform doctors about the hereditary diseases in the family (both in the future father's and mother's lines), etc.
In civilized countries, genetics and medicinefunction indissolubly. To be interested in the health of the future spouse (wife) and the presence of hereditary diseases in the family is taken long before marriage. In a number of countries, a medical certificate is an obligatory document for registering a marriage.
In recent years, medical genetics hasa 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 -timely detection of a patient with hereditary pathology, determination of its nature and referral of the patient to the appropriate medical and genetic center.
