Swiss Genetics & Biochemistry Questions & Answers

Charles M. Wormington, PhD, OD, FAAO

1. The flow of genetic information is from: a. RNA to protein to DNA b. Protein to DNA to RNA c. DNA to RNA to protein d. DNA to protein to RNA

2. Virtually all diseases have a genetic component. This means optometric physicians will need to do all of the following EXCEPT: a. Realize when genetic factors play a role in a patient b. Improve family history taking skills c. Know how to diagnose and treat every genetic eye disease d. Know how to access new knowledge on medical genetics and use it in patient care

3. Trisomy 21 (Down syndrome) is an example of which kind of genetic disease? a. Chromosomal b. Autosomal dominant c. Autosomal recessive d. X-linked recessive

4. Which of the following is NOT one of the criteria of autosomal dominant inheritance? a. Males and females are affected in equal numbers b. Essentially every affected child will have an affected parent c. Transmission of the trait is vertical d. If the trait is rare, parental consanguinity is more probable

5. The inheritance pattern for protan (red cone pigment) color deficiency is ______. a. Chromosomal b. Autosomal dominant c. Autosomal recessive d. X-linked recessive e. Mitochondrial

6. The inheritance pattern for type 2 diabetes mellitus is ______. a. Chromosomal b. Autosomal dominant c. Autosomal recessive d. X-linked recessive e. Multifactorial

7. Examples of multifactorial (complex) ocular disorders include all of the following EXCEPT: a. Myopia b. Red/green color deficiency c. Age-related macular degeneration d. Primary open-angle glaucoma

1 8. All of the following are characteristics of autosomal recessive inheritance EXCEPT: a. Autosomal recessive traits are expressed only when both copies of a gene are mutant. b. The pattern of inheritance is horizontal (found in a single group of brothers and sisters. c. Except for a new mutation, every affected child will have an affected parent. d. Both sexes are affected in equal numbers.

9. All of the following are characteristics of mitochondrial inheritance EXCEPT: a. Mitochondrial DNA is paternally inherited. b. All children of an affected mother are affected. c. Specific tissues have different proportions of mitochondria and can therefore be affected differently. d. Areas rich in mitochondria include striated and cardiac muscle.

10. The most abundant protein in the body is: a. albumin b. keratin c. insulin d. collagen e. hemoglobin

11. The overall folded conformation of a polypeptide chain is called ______structure. a. primary b. secondary c. tertiary d. quaternary

12. When a patient has had a number of instances of subconjunctival hemorrhages, one of the differential diagnoses you should be thinking about is: a. Marfan's syndrome b. Ehlers-Danlos syndrome c. Vitamin C toxicity d. Vitamin C deficiency

13. Which of the following is not one of the four major classes of biomolecules? a. Lipids b. Proteins c. Polysaccharides d. Glycosaminoglycans

14. Benign intracranial hypertension (pseudotumor cerebri) with papilledema (edema of the optic nerve head) can be caused by an excess of ______. a. Vitamin A b. Vitamin C c. Vitamin D d. Vitamin K

15. The main function of the mitochondrion, a cell organelle, is ______. a. Protein synthesis b. Energy production (the powerhouse of the cell) c. The site where sugars are made and linked into starches or joined to proteins or lipids d. To degrade debris and recycle cell contents

2 16. The key clinical sign of Tay-Sachs disease is ______. a. Strabismus b. Horizontal supranuclear gaze palsy c. Pigmented pinguecula d. Cherry-red spot in the macula

17. The traffic policeman of the cell (i.e., the organelle that sorts the intracellular proteins and directs them to their proper destination) is the: a. Peroxisome b. Ribosome c. Lysosome d. Golgi apparatus e. Nucleus

18. The process of anaerobic glycolysis results finally in the production of which compound? a. Glucose b. Pyruvate c. Sorbitol d. Fructose e. Lactate

19. Xanthelasma, especially in a young person, can be an indication of: a. Hypercholesterolemia b. Diabetes mellitus c. Cancer d. Gaucher disease

20. A Hollenhorst plaque is an indication of: a. Heroin addiction b. Possible impending stroke c. Diabetes mellitus d. Vitamin A deficiency

21. Vitamin E toxicity can result in all of the following EXCEPT: a. Increase in risk of death b. Headaches c. Hemolytic anemia d. Systemic hypertension

22. Membrane fluidity can be increased by: a. Increased length of fatty acid chain b. Increased unsaturation (i.e., more double bonds) of fatty acid chains

23. Myelin has more ______than the inner mitochondrial membrane. a. Protein b. Lipid