Separation of medical genetics into separate disciplines

Medical genetics is part of human genetics. Unlike other species of living organisms for which it is not common to divide genetics into separate sections, for a person when he himself becomes the object of research, such a division of genetics is justified.

Medical genetics has many divisions. It distinguishes such sections as molecular, biochemical genetics, cytogenetics, clinical genetics. Each of these sections has its own object and methods of study. Molecular medical genetics studies pathological processes at the molecular level, beginning with the structure of the gene and its changes and ending with the interaction of gene products with each other at the molecular level. Biochemical genetics examines the nature of hereditary metabolic diseases at the level of enzymes, enzymatic reactions and their products. Cytogenetics studies with the help of specific methods the structure of human chromosomes and its violation in the case of chromosomal diseases. The main goal of clinical genetics is the development and implementation of various methods of diagnosis, as well as assistance to patients with hereditary pathology and the prevention of hereditary pathology in families and in populations. This division of medical genetics into separate branches, depending on the methods used to study hereditary pathology, is undoubtedly artificial, and we often see, especially recently, that the methods used in one section penetrate into other sections of medical genetics.

Any pathological process has a certain molecular basis, in which genes and( or) their products necessarily play an important role. Therefore, understanding the causes of many, and the mechanism of development of all human diseases is impossible without understanding what genes are and how involved in the pathological process.

Medical genetics can be defined as a system of knowledge about the role of genetic factors in human pathology and a system of methods for diagnosing, treating and preventing hereditary pathology in a broad sense.

Human hereditary diseases are those pathological conditions caused by the change in genetic material. Depending on the nature of these changes, there are mendicant, or monogenic, hereditary diseases, chromosomal diseases, mitochondrial and multifactorial diseases.

Hereditary pathology, which includes mendery and chromosomal pathology, occurs in about 4 out of 1,000 newborns. Significantly more often in newborns, congenital malformations are detected, most of which are inherited multifactorial - about 30 out of 1,000 newborns.

Medical genetics is quite differentiated. It distinguishes such sections as molecular and biochemical genetics, cytogenetics, clinical genetics and other sections.