Genetics

Question 1

Mitochondrial Diseases

Answer 1

Leber’s Hereditary Optic Neuropathy.
Myoclonic epilepsy with ragged red fibers: myoclonic seizures and myopathy.
Mitochondrial encephalomyopathy with Lactic Acidosis (MELAS)

Question 2

Follicular Lymphoma translocation

Answer 2

t(14, 18)

BCL-2 (anti-apoptotic stabilizes mitochondrial membrane to keep cytochrome c in there)

Question 3

Mantle Cell Lymphoma translocation

Answer 3

t(11, 14)

cyclinD1 (regulation of G1->S phase transition)

Question 4

Burkitt’s Lymphoma translocation

Answer 4

t(8, 14)

c-myc (nuclear regulator of cell growth)

Question 5

APML translocation

Answer 5

t(15,17), APL: trans retinoic acid

Can present as DIC

Question 6

CML translocation

Answer 6

t (9,22)