Cytogenetics

Cytogenetics is a branch of genetics that studies the relationship between the patterns of inheritance of traits and the structure of special structures of the cell nucleus that carry genetic information - chromosomes. Cytogenetic research methods are increasingly used in medical practice.

In particular, a connection has been established between changes in chromosomes and the appearance of deviations from the normal development of the body. It has been proven that a large number of hereditary diseases and developmental defects in humans are caused by changes in the structure of chromosomes. By examining cell preparations from such a patient under a microscope, one can detect various defects in the structure of chromosomes and thereby identify the cause of the disease.

Cytogenetics arose at the turn of the 19th and 20th centuries. At the beginning of the 20th century. a parallelism was established between changes in hereditary characteristics and structural features of chromosomes. Subsequently, it was proven that the transmission of hereditary characteristics from generation to generation is associated with the preservation of the unchanged structure of chromosomes. During cell division, all chromosomes are doubled and distributed evenly among daughter cells.

During fertilization, the chromosomes of the paternal and maternal cells are combined, and thus the descendants receive the hereditary characteristics of both the father and the mother.

Thanks to cytogenetic studies, it was possible to obtain evidence of the existence of the process of exchange of sections between chromosomes and the resulting changes in characteristics, to discover the order of arrangement of genes in chromosomes and to construct so-called genetic maps of chromosomes for a number of organisms, to find out the reasons leading to the loss of individual chromosomes from the complete set in the time of cell division, or, conversely, the multiplication of the entire set of chromosomes, leading to the emergence of polyploids.

Cytogenetic methods were used to study the types of changes in chromosomes, which turned out to be very important for the study of hereditary diseases and developmental defects. In the 60-70s. 20th century cytogeneticists, in alliance with biochemists and molecular biologists, actively studied the molecular structure of chromosomes. Research at the molecular level has made it possible to understand many fundamental issues of the structure of chromosomes and their functioning.

It has been established that in higher organisms the exchange of genes is often accompanied by a change in their activity. Changes in chromosomes (chromosomal aberrations), as a rule, lead to disturbances in the development of the body, often cause illness, and most often lead to death.

Chromosomal changes can be beneficial for an organism and its offspring only in cases where there is an increase (or decrease) in the entire set of chromosomes at once (for example, polyploidy in the plant world).

The development of cytogenetics methods contributes to the early detection and treatment of many hereditary diseases.

Cytogenetics: The study of genetics at the cellular level

Cytogenetics is a science that combines two powerful fields of study: cytology and genetics. She studies the structure and behavior of chromosomes and their relationship with the hereditary properties of organisms. Cytogenetics plays an important role in the diagnosis of genetic diseases, the study of evolution, toxicology and oncology.

The term "cytogenetics" is derived from the Greek words "κύτος" (cytos), meaning "cell", and "γενετική" (genetikē), which translates as "genetics". The main task of cytogenetics is the analysis and study of chromosomes - structural elements containing genetic information.

Cytogenetics includes various research methods, including cytogenetic analysis, molecular cytogenetics and tumor cytogenetics. The main tools used by cytogeneticists are microscopy, fluorescent in situ hybridization (FISH), comparative genomic hybridization (CGH), and polymerase chain reaction (PCR).

Research in the field of cytogenetics is of great importance for medicine. Cytogenetic analysis can detect chromosomal abnormalities such as Down syndrome, Turner syndrome and other genetic disorders. It helps in diagnosis and counseling of patients with hereditary diseases, as well as in family planning and prenatal diagnosis.

Molecular cytogenetics, including FISH and CGH, allows us to study structural changes in chromosomes at the molecular level. These methods help identify genetic mutations associated with cancer and determine the effectiveness of treatment.

Cytogenetics also plays an important role in the study of the evolution and systematics of organisms. Analysis of chromosomes and their structural changes allows scientists to compare different species and determine their relationships. This helps to better understand the origin and development of living organisms over millions of years.

One of the newest areas of cytogenetics is tumor cytogenetics. Research in this area makes it possible to identify chromosomal abnormalities associated with the development of tumors and to study the mechanisms of oncogenesis. This helps develop more effective methods for diagnosing and treating cancer.

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