citogenetika

Citogenetika is a branch of genetics that studies the structure and function of chromosomes and their relationship to heredity. It involves the microscopic examination of chromosomes to identify structural abnormalities such as translocations, deletions, duplications, and inversions, as well as numerical abnormalities like aneuploidy, which is an abnormal number of chromosomes. These chromosomal changes can lead to a variety of genetic disorders and developmental abnormalities.

The primary tool in citogenetika is karyotyping, a process where chromosomes are stained and arranged in order of size and shape. This allows for the visualization of the entire set of chromosomes in a cell, known as a karyotype. Banding techniques, such as Giemsa banding (G-banding), are commonly used to create a unique pattern of light and dark bands on each chromosome, aiding in their identification and the detection of subtle structural alterations. Fluorescence in situ hybridization (FISH) is another important technique that uses fluorescent probes to detect specific DNA sequences on chromosomes, allowing for the identification of deletions, duplications, and translocations.

Citogenetika plays a crucial role in diagnosing genetic diseases, assessing reproductive risks, and understanding the mechanisms of cancer development. It is used in prenatal diagnosis to detect chromosomal abnormalities in a fetus, in pediatric genetics to diagnose developmental delays and birth defects, and in oncology to identify chromosomal changes associated with specific types of cancer. The field continues to evolve with advancements in molecular technology, providing more precise and comprehensive analysis of the genome.