What is the hallmark genetic change associated with Chronic Myeloid Leukaemia (CML)?
Understand the Problem
The question is asking for the specific genetic alteration that is commonly linked to Chronic Myeloid Leukaemia (CML). This requires knowledge of genetics and oncology, specifically what hallmark changes are found in CML patients.
Answer
The Philadelphia chromosome is the hallmark genetic change in CML.
The hallmark genetic change associated with Chronic Myeloid Leukemia (CML) is the presence of the Philadelphia chromosome, which results from a translocation between chromosome 9 and 22 creating the BCR-ABL1 fusion gene.
Answer for screen readers
The hallmark genetic change associated with Chronic Myeloid Leukemia (CML) is the presence of the Philadelphia chromosome, which results from a translocation between chromosome 9 and 22 creating the BCR-ABL1 fusion gene.
More Information
The Philadelphia chromosome is named after the city where it was first discovered. It involves a reciprocal translocation between chromosome 9 and chromosome 22, specifically t(9;22)(q34;q11), and this fusion leads to the ABL1 gene on chromosome 9 becoming connected to the BCR gene on chromosome 22, forming the BCR-ABL1 fusion gene. This gene is responsible for the overproduction of abnormal white blood cells characteristic of CML.
Tips
Confusing the Philadelphia chromosome with other common chromosomal translocations in different types of leukemias can be a mistake. Remember, CML is specifically associated with the BCR-ABL1 fusion due to the 9;22 translocation.
Sources
- Genetic Biomarkers in Chronic Myeloid Leukemia - PubMed Central - pmc.ncbi.nlm.nih.gov
- bcr-abl, the hallmark of chronic myeloid leukaemia in man - PubMed - pubmed.ncbi.nlm.nih.gov
- Chronic myeloid leukemia - Genetics - MedlinePlus - medlineplus.gov
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