Reciprocal Translocation: Causes, Symptoms, and Treatment Options

Reciprocal translocation

exchange of segments between two nonhomologous chromosomes

Reciprocal translocation is a genetic abnormality that occurs when two different chromosomes exchange fragments with each other. This results in a rearrangement of genetic material that can lead to a variety of health issues. The term “reciprocal” means that the exchange is mutual, with each chromosome donating and receiving a fragment of genetic material. Translocations can be balanced or unbalanced, depending on whether the total amount of genetic material remains the same or is altered as a result of the exchange.

A common example of reciprocal translocation is the Philadelphia chromosome, which is a translocation between chromosomes 9 and 22 that is associated with chronic myelogenous leukemia (CML). In this case, a piece of chromosome 22 containing a gene called BCR breaks off and joins with a piece of chromosome 9 containing a gene called ABL. This creates a hybrid gene called BCR-ABL that produces an abnormal protein that promotes the growth of cancer cells.

Reciprocal translocations can be detected using techniques such as karyotyping, fluorescent in situ hybridization (FISH), or genome sequencing. The effects of a translocation on health can vary depending on factors such as the size and location of the exchange, the genes involved, and the presence of other genetic abnormalities. They can cause infertility, miscarriages or birth defects, intellectual disabilities, or an increased risk of certain types of cancer. However, not all translocations have negative effects and sometimes they can be inherited without causing any issues. Treatment options may include monitoring, genetic counseling, or specific therapies tailored to the specific condition resulting from the translocation.

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