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STEP One > Genetics > Flashcards

Genetics Flashcards

1
Q

Mitochondrial Diseases

A

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

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2
Q

Follicular Lymphoma translocation

A

t(14, 18)

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

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3
Q

Mantle Cell Lymphoma translocation

A

t(11, 14)

cyclinD1 (regulation of G1->S phase transition)

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4
Q

Burkitt’s Lymphoma translocation

A

t(8, 14)

c-myc (nuclear regulator of cell growth)

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5
Q

APML translocation

A

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

Can present as DIC

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6
Q

CML translocation

A

t (9,22)

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STEP One (20 decks)

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