Karyotype - an analysis that will reveal the secrets of heredity

Today, often in fiction or detective films, investigators often find the true culprit in a crime using a karyotype study - an analysis that allows you to study a personโ€™s DNA and compare it, if necessary, with control samples. Undoubtedly, genetic research began to be widely introduced into medical practice with the creation of appropriate equipment, research methods and the emergence of a generation of specialists capable of working with this equipment.

Studies on the karyotype - an important method of genetic diagnosis

The study of the karyotype in medical practice is one of the stages of genetic counseling. The principle of research itself is based on the fact that in the cells of any living organism the composition of chromosomes, carriers of genetic information, remains unchanged throughout life. Each living creature, regardless of the species, receives from its parents half of the chromosome set, which connects at the moment of fertilization - from this moment the development of a new organism begins. The number of chromosomes and their characteristics remain unchanged throughout life. Actually, therefore, each person only once in a life has to conduct a study on the karyotype.

The analysis can be performed with cells of any organ of the person - the composition of the chromosomes remains unchanged regardless of the tissue and method of sampling the material. This study is in demand in medicine, where such a modern diagnostic method is used to identify possible genetic diseases in both the patient himself and his relatives. This analysis found application in forensics, where the karyotype of cells is used in various examinations and forensic medicine.

How to conduct a study

You need to know that, if necessary, any cells of the human body, and in some cases even dead cells (hair, nails, epidermis) can be examined. But the speed of obtaining the result depends on how intensively the cells of one or another tissue of the human body divide. After all, only with the nuclei of often dividing cells can a quick test for the karyotype be performed. The analysis, even under a favorable set of circumstances, will require some time - at best, the full result of the study can be obtained on hand in 25-30 days. In forensic practice, rapid tests can be used - they require less time, but their result also requires additional verification in normal mode.

During the study, the taken sample of the material is cultured in laboratory conditions. On special nutrient media and only in laboratory conditions, cell culture is grown. Most often, blood is taken for research - capillary (very rare) or venous, less often - scraping from the oral mucosa. A blood test for a karyotype in modern medical practice is most often used for medical and genetic counseling. This method of obtaining material helps to obtain a sufficient number of cells (most often white blood cells), which will be grown in the laboratory, fixed, stained with special dyes and studied.

When karyotype analysis is important

It often turns out that chromosomal changes in the cells of one of the potential parents are to blame for infertility of a married couple, therefore, with infertility or habitual miscarriage, a karyotype is examined. The analysis is usually prescribed in a complex of instrumental and laboratory studies, but it should be carried out only in the direction of the doctor, after examination and routine tests.

This analysis is also necessary when identifying a hereditary pathology, especially transmitted by an autosomal recessive type (the disease occurs only when the โ€œmeetingโ€ of two pathological genes). Today, this study can be assigned to both a newborn child and a person throughout his entire subsequent life, as well as to the fetus during an invasive diagnosis. In this case, the material for analysis becomes amniotic fluid, particles of the placenta or chorion.


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