Allelic loss is a term used in genetics to describe when one copy of a gene is lost or deleted. It is pronounced /əˈliːlɪk lɒs/ using IPA phonetic transcription. The first syllable "al-" is pronounced with a short "a" sound, followed by the long "e" vowel sound in the second syllable "-lee". The third syllable "-lik" is pronounced with a short "i" sound followed by a long "e" sound. The final syllable "-los" is pronounced with a short "o" sound followed by a soft "s" sound.
Allelic loss refers to a genetic phenomenon where one of the two copies of a specific gene or genomic region in a cell is lost, resulting in a reduction or complete absence of the corresponding protein product. This loss can occur through a variety of mechanisms, including mutation, deletion, rearrangement, or inactivation of the specific allele.
Allelic loss plays a significant role in the development and progression of numerous genetic disorders and cancer. In cancer, allelic loss often occurs as a result of chromosomal abnormalities, such as deletion or rearrangement of chromosomal segments that contain tumor suppressor genes. Tumor suppressor genes are involved in regulating cell growth, division, and apoptosis, and their loss of function can contribute to uncontrolled cell proliferation and tumor formation.
The detection of allelic loss is commonly carried out using molecular techniques, such as polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH). PCR can amplify specific DNA sequences to determine the presence or absence of specific alleles, while FISH uses fluorescent-labeled DNA probes that bind to specific genomic regions to visualize any loss or alteration of the target sequence.
Understanding allelic loss has significant implications for genetic research and clinical applications. It can contribute to the identification of disease-causing genes, the development of diagnostic tests, and the design of targeted therapies for various genetic disorders, including cancer.
The word "allelic loss" comes from the combination of two terms: "allele" and "loss".
"Allele" refers to one of two or more alternative forms of a gene that occupy the same position on a specific chromosome. Each allele is responsible for encoding a distinct trait or characteristic. For example, in humans, there are two alleles for most genes, one inherited from each parent.
"Loss" simply means the absence or reduction of something, in this case, the absence or reduction of one allele.
Therefore, "allelic loss" refers to the condition where one copy of an allele is lost or deleted in a particular cell or organism. This can occur through various genetic mechanisms such as deletion, mutation, or chromosomal abnormalities. Allelic loss can have significant implications in genetics and can be associated with the development of various diseases, including cancer.