Final Exam Notes .

• Queens University

• PATH 310

• 1. Mutations in the genes listed below cause diseases covered this semester in PATH310. A)
  Name the disease associated with each mutation (1 mark each) and B) how does each mutation
  give rise to the disease (2 marks each)? (15 mark total)

  Gene Mutation	Disease	Pathogenesis
  Point mutations in FVIII Gene Intron 22 (most common) or 1 Inversion	Hem A	Mutation affects protein folding, processing and function thus impairing the coagulation cascade by lack of F8 in the intrinsic tenase complex  Severe Hemophilia A
  Mutation in the promoter region of the FIX Gene	Hem B	Mutation affects protein folding, processing and function thus impairing the coagulation cascade by lack of F9 in the intrinsic tenase complex
  Prothrombin 20210	Thrombosis	Increases in coagulation factor (thrombin) activity via increased mRNA stability
  Factor V Leiden	Thrombosis	Increases in coagulation factor activity via resistance to protein C inactivation
  Protein C	Thrombosis	Decrease in coagulation inhibitor activity due to impaired binding
  Protein S	Thrombosis	Decrease in coagulation inhibitor activity due to reduced function
  Antithrombin	Thrombosis	Decrease in coagulation inhibitor activity due to impaired binding to thrombin
  KCNQ1	Long QT1- (dominant) Jervell Lange Nielson syndrome (recessive)	Decrease activity of potassium ion channel which leads to sudden death by physical exertion
  KCNH2	Long QT2	Decrease activity of potassium ion channel which leads to sudden death triggered by auditory signals
  SCN5A	Long QT3	Increase activity of sodium ion channel. Death occurs during slee