What’s Cytogenetics?

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Cytogenetics studies cells, chromosomes, and their relation to hereditary disorders. It uses techniques like CGH and FISH to detect chromosomal abnormalities in samples from blood, amniotic fluid, tumors, and bone marrow. Cytogenetics helps diagnose and treat diseases like Down syndrome, cancer, and infertility.

Cytogenetics is a field of genetics that mainly focuses on the cell, its structure and the functioning of its parts. It also focuses specifically on chromosomes and how they are related to different hereditary disorders. Researches and experiments in the field of cytogenetics usually involve faulty chromosomes which can tell how ailments and diseases are instigated.

The determination of how many chromosomes are present in a human led to the emergence of cytogenetics. The discovery that some diseases are consistently indicated by some chromosomal change was also a big factor in making cytogenetics an important research field. Since then, many technological and chemical processes have been invented to aid in the observation and analysis of chromosomes. Among these processes are comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH).

Both CGH and FISH often involve laboratory work, so cytogeneticists are technicians and scientists who are usually “behind the limelight,” so to speak, making sure that doctors get the correct information about a given disease. FISH is a technique that illuminates chromosomes using fluorescent molecules in order to specify any abnormalities in the arrangement of chromosomes. These abnormalities usually show up in a different color than normal chromosomes. CGH, on the other hand, is a method that can detect any disturbing changes in chromosomes, such as in samples of malignant cysts. In both methods, the samples are often viewed under a microscope, as the chromosomes are so tiny.

Chromosome samples are extracted from blood, amniotic fluid, tumor biopsies, and bone marrow. Tissue from a baby’s skin and umbilical cord can also be used to obtain samples. These samples would then be cultured to multiply the cells, and when there are enough cells, the samples would be placed in a machine called a centrifuge that separates the sample cells from other materials that won’t be used in the analysis. The sample cells are then placed on the slide using a dropper and aged for several days, after which the sample is ready to be analyzed.

Cytogenetics plays a significant role in medicine, as laboratory results help doctors diagnose a disease and decide the best treatment for the patient. This field is especially useful for hereditary and congenital disorders such as mental retardation, Down syndrome, and Edward syndrome. Even cancer and infertility can get better diagnosis and treatment. Cytogenetics has also been a vital factor in keeping people from getting cancer by looking at genetic predictors that indicate the chances of getting cancer.




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