Week 1

Question 1

Prophase I

Answer 1

Interphase –> leptotene (SC linked together) –> zygotene (assemble synaptonemal complex) –> Pachytene (CO) –> Diplotene (Dissemble synaptonemal complex + chiasma forms) –> diakinesis

Question 2

Mendelian Trends

Answer 2

1. AD: affected –> 50% affected
2. AR: affected –> 25% affected
3. X-linked: (D) All affected males –> all affected female
4. X-linked: (R) all affected females –> all affected male

Question 3

Hemophilia (X-linked recessive)

Answer 3

1. Normally, platelets –> fibrin and clots (has constant activation in and tissue factor paths out)
2. Normally: Prothrombin –> thrombin; Fibrinogen –> Fibrin and Clot with XIIIa
3. 1/3 of HP is caused by spontaneous meiosis mutation

Question 4

Types of Hemophilia

Answer 4

1. Type A: low VIII factor (frequent) in liver
2. Type B: low IX factor (smaller) in liver
3. Von Willebrand (D): Ch12, low VWF (most common)
   > VIII and VWF circulate together in endothelial cells and subendothelial matrix
   > Both VIII and IX activate X for coagulation cascade
   > VWF helps platelet adhere to subendothelial collagen via glycoprotein Ib

Question 5

HP treatment

Answer 5

1. Liver transplant (not recommended)
2. Blood transfusion (for AIDS)
3. Replace deficient factor (short 1/2 life)
4. Gene therapy (replace, add new, turn on/off)
   > Mild HP: >5% good factors, Moderate HP: 1-5%, Severe HP: <1% + bleeding and joint problems
   > At least 1% normal can improve bleed phenotype

Question 6

Bispecific Ab for Hem A

Answer 6

FIXa - FVIIIA - FX: Y shaped IgG Ab
> 2 Ab: Artificially link to Ab to recruit proteins
> Replace FVIII cofactor with small molecule/bispecific Ab that mimics activated FVIII activity
> Unwanted blood clots –> DVT –> stroke/MI