Exam 2 - Diseases

Question 1

What condition is defined by the karyotype:

t(9;22) (q32;q11)

Answer 1

CML (Chronic Myeloid Leukemia)

Question 2

What disease is define by the karyotype: t(8;21)(q22;q22)

Answer 2

AML (Acute Myeloid Leukemia)

Question 3

What disease is define by the karyotype: t(14;18)(q32;q21)

Answer 3

Non-Hodkins Leukemia

Question 4

What is the gene that is most commonly translocated in poor prognosis leukemias? What are it’s primary functions?

Answer 4

MLL (11q23)

Transcription factor to maintain HOX gene expression, though HOX expression can be initiated without it.

Initiated expression ≠ Maintained expression

Question 5

What causes Down Syndrome?

Answer 5

Trisomy 21 (extra copy of 23rd chromosome)

Question 6

What phase of cell division is trisomy 21 most likely to occur at?

Answer 6

Metaphase or anaphase? (need to ask Dr Bertrand, I believe he said metaphase but everywhere I look says anaphase.)

Question 7

What are the three possible consequences of misfolded proteins?

Answer 7

1. Loss of Function
2. Gain of Toxic Function
3. Infectious Misfolding (precurser = prion protein)

Question 8

What are some examples of diseases that arise from misfolded proteins that lose their function?

Answer 8

Albinism, Cancer, CF (Cystic Fibrosis)

Question 9

What are some examples of diseases that arise from misfolded proteins that gain a toxic function?

Answer 9

Alzheimer’s, Type II diabetes, Parkinson’s

Question 10

What are some examples of diseases that arise from infectiously misfolded proteins? What precursor protein do these arise from?

Answer 10

Mad Cow Disease, Kuru, Creutzfeld Jakob Disease

Prion Protein