kromoszómaátpréseket

Kromoszómaátprések, also known as chromosomal translocations, are a type of mutation where a portion of one chromosome breaks off and attaches to another chromosome. These exchanges can be reciprocal, meaning that segments from two different chromosomes are swapped, or non-reciprocal, where a segment from one chromosome is transferred to another without any material being returned.

Translocations can occur during meiosis, the process of cell division that produces sperm and egg cells, or they can be acquired later in life due to environmental factors or other cellular errors. While some translocations have no observable effect on an individual's health, others can lead to significant genetic disorders.

One common consequence of translocations is that they can disrupt gene function. If a translocation breaks a gene in half or moves it to a different regulatory environment, it may no longer function correctly. This can have various impacts depending on the gene involved.

Furthermore, translocations can contribute to infertility or recurrent miscarriages, particularly if the rearranged chromosomes cannot pair up properly during meiosis. This can lead to unbalanced gametes, which are sperm or egg cells with an abnormal number of chromosomes.

In some cases, chromosomal translocations are associated with specific types of cancer. For instance, the Philadelphia chromosome, a reciprocal translocation between chromosomes 9 and 22, is a hallmark of chronic myeloid leukemia (CML) and some cases of acute lymphoblastic leukemia (ALL). The translocation fuses parts of two genes, creating a new gene called BCR-ABL, which drives uncontrolled cell growth. Genetic testing can identify translocations, aiding in diagnosis and sometimes guiding treatment decisions.