Philadelphia Chromesome

Question 1

The Philadelphia (Ph) chromosome

Answer 1

an abnormal chromosome that is made when pieces of chromosomes 9 and 22 break off and trade places. The ABL gene from chromosome 9 joins to the BCR gene on chromosome 22 to form the BCR::ABL fusion gene.

Question 2

The Philadelphia (Ph) chromosome causes…

Answer 2

Leukemia

Question 3

What are the consequences of the Philadelphia chromosome?

Answer 3

The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Philadelphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability

Question 4

The protein made by the BCR::ABL fusion gene can…

Answer 4

cause immature white blood cells to grow uncontrollably and build up in the bone marrow and blood.

Question 5

Tyrosine-protein kinase ABL1 (also known as ABL1)

Answer 5

-is a protein that, in humans, is encoded by the ABL1 gene located on chromosome 9

-Mutations in the ABL1 gene are associated with chronic myelogenous leukemia (CML)

Question 5

A reciprocal translocation between chromosomes 22 and 9 produces…

Answer 5

the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia.

Question 5

The breakpoint cluster region protein (BCR)

Answer 5

-is a protein that in humans is encoded by the BCR gene.

-BCR is one of the two genes in the BCR-ABL fusion protein, which is associated with the Philadelphia chromosome.

Question 6

The chromosome 22 breakpoint for this translocation (regarding the Philadelphia Chromosome) is located within the

Answer 6

BCR gene.

Question 7

The Philadelphia chromosome or Philadelphia translocation (Ph)

Answer 7

-is defective and unusually short

-because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22

-and contains a fusion gene called BCR-ABL1.

Question 8

What happens when ABL1 gene of chromosome 9 is juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22?

Answer 8

(coding for a hybrid protein: a tyrosine kinase signalling protein that is “always on) this causes the cell to divide uncontrollably by interrupting the stability of the genome

-and impairs various signalling pathways governing the cell cycle.