Transzlokációk

Transzlokációk refers to the movement of a chromosome segment from one chromosome to another. This can occur between homologous chromosomes (reciprocal translocation) or non-homologous chromosomes. In a reciprocal translocation, two chromosomes break, and the segments are exchanged. For example, a piece of chromosome 1 might swap with a piece of chromosome 5. This type of translocation usually does not result in a gain or loss of genetic material and is often asymptomatic in the carrier, though it can lead to problems during meiosis, potentially causing unbalanced gametes.

A non-reciprocal translocation involves the transfer of a chromosome segment from one chromosome to a different, non-homologous chromosome without any exchange of material. This can result in a partial duplication or deletion of genetic information, which may have phenotypic consequences. Robertsonian translocations are a specific type of translocation that occurs between two acrocentric chromosomes (chromosomes with the centromere very close to one end). The short arms of these chromosomes are lost, and the long arms fuse at the centromere. This is a common type of translocation in humans and is often associated with certain genetic disorders like Down syndrome when it leads to unbalanced inheritance.

Translocations can arise spontaneously or be inherited from a parent. They are significant in genetics and medicine as they can be a cause of genetic disorders, infertility, and recurrent miscarriages. Genetic testing, such as karyotyping or FISH analysis, is used to detect translocations.