Cytogenics of haem Flashcards
1
Q
Does variation exist in DNA copy numbers between normal people?
A
Yes, there are some areas which contain copy number variations. Some of these are associated with a predisposition to certain disorders
2
Q
What is the significance of the PML-RARA fusion gene following Chr 15;17 translocation?
A
It is a hidden rearrangement that is not detected by standard G banding. FISH can detect the fusion gene and must be done urgently as they are treated to prevent hemorrhaging.
3
Q
What cytogenic change occurs on chromosome 16 in AML?
A
An inversion (part of short arm goes to long arm and vice versa - detected by FISH and G banding), which induces a fusion gene to form.
