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  • Answer 50 questions in 15 minutes.
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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.
1. Pts with albinism are at inc risk For what cancer

2. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product

3. What does the ELISA test for

4. What can excess vit B3 cause

5. How do microtubules grow and collapse

6. What does commaless - nonoverlapping genetic code refer to...

7. Which direction does kinesin go

8. What does desmin stain for

9. What does the start codon code for in eukaryotes and prokaryotes

10. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain

11. recurrent pulmonary infxns in CF are due to what organisms

12. Type I collagen

13. How do permanent cells grow and regenerate and What are examples of permanent cells

14. What defects characterize DiGeorge syndrome

15. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity

16. What are uncoupling agents

17. What metabolic rxns occur in the cytoplasm

18. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative

19. Which anti gout drugs work on microtubules

20. What rxn creates ATP

21. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme

22. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly

23. What are the results of unbalanced translocation

24. What 3 syndromes are associated with vit B1 def

25. What does the golgi assemble proteoglycans from

26. What step of uric acid synthesis does xanthine oxidase catalyze

27. What are the only purely ketogenic amino acids

28. What does a phosphatase do

29. What are the blood glucose levels maintained by for days 1-3

30. What collagen type is most frequently affected in ehlers danlos and What are common complications

31. telangiectasia - recrrent epistaxis - skin discolorations - AVMs

32. Where is EtOH dehydrogenase located

33. What 3 amino acids are necessary for purine synthesis

34. What is the activated carrier for methyl groups

35. What is the defect in II A familial hypercholesterolemia

36. What is the Name and function of vit B1

37. What happens in hyperammonemia

38. What is the defect in cystinuria

39. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

40. What is locus heterogeneity and give an example

41. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients

42. What amino acid makes up most of the octamer

43. What is the Name and function of vit B2

44. What is the TX for PKU

45. How does ouabain work

46. What does a carboxylase do

47. What does Ehlers Danlos cause and why

48. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy

49. What is the RDE of gluconeogenesis

50. caf