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Genetics (population genetics, gene regulation, epigenetics)
Biochemistry (Pathways)
ANS/Neuro/Muscle
Pharm. Dynamics/Kinetics/Drugs
100

This is an example of heterozygote advantage

Sickle-cell Anemia.


Individuals who are heterozygous for the sickle cell allele are at a selective advantage because they are protected against malaria but do not get sickle cell disease.

100

A 65 year old is brought to her physician for evaluation of her swollen big toe. Aspiration of her big toe showed needle shaped crystals. The patient was diagnosed with gout. She was started on medication that inhibits which step?

  1. IMP- Inosine

  2. GMP- Guanosine

  3. Inosine-Hypoxanthine

  4. Hypoxanthine-Xanthine

  5. Adenosine-Inosine

  • Hypoxanthine-Xanthine (Allopurinol inhibits xanthine oxidase)

100

A patient is suspected to have progressive muscle weakness due to an autoimmune disease affecting the neuromuscular junction. Which of the following would be used to treat this disorder?

  1. Edrophonium

  2. Physostigmine

  3. Malathion

  4. Pyridostigmine 

  5. Atropine

  • Pyridostigmine 

100

The maximal effect that a drug could evoke is defined as?

Efficacy

200

When an allele is introduced to a small population and grows to a high frequency (mostly in isolated geographical areas due to religion, similar culture, etc)

Founder Effect

200

A 10-year-old boy comes to his pediatrician for evaluation of recurrent lung infections, over the past few months. Laboratory studies showed that the patient has remarkably low immunoglobulins. The patient has decreased T and B cell functions. Which of the following enzymes are most likely deficient?

A. Xanthine Oxidase 

B. Purine Nucleotide Phosphorylase 

C. Adenosine Deaminase 

D. 5’ nucleoside 

E. Guanase

C. Adenosine Deaminase  (Autosomal Recessive SCID)

200

A patient is suspected to have progressive muscle weakness due to an autoimmune disease affecting the neuromuscular junction. Which of the following would be used to diagnose this disorder?

  1. Edrophonium

  2. Physostigmine

  3. Neostigmine

  4. Pyridostigmine 

  5. Atropine

  • Edrophonium

200

These are examples (given in your lectures) of drugs that increase the synthesis of cytochrome p450 enzymes.

Rifampin, Phenobarbital, Carbamazepine.

Cytochrome p450 enzymes are responsible for the metabolism of 80% of drugs in clinical use. So, these drugs increase transcription of cytochrome p450 enzymes.

300

A 4 year old child is seen by the doctor and is found to have mild intellectual disability and rapid weight gain associated with a huge appetite. The pediatrician later makes the diagnosis of Prader-Willi syndrome. Molecular diagnostic analysis of this child will likely reveal which of the following?

  1. Promoter mutation of the maternal SNRPN gene

  2. Inability to produce SNRPN protein

  3. Duplication of the paternal UBE3A gene

  4. Maternal deletion of the UBE3A gene

  5. Paternal imprinting of the SNRPN gene

  • Inability to produce SNRPN protein (only maternal UBE3A expressed)

                                                           


        
300

This enzyme catalyzes extracellular crosslinking between collagen fibers, strengthening them. It also requires copper as a cofactor.

Lysyl Oxidase

300

A 25 year old is brought to the emergency department by ambulance after being found unconscious in the street. He has fever, tachycardia, dilated pupils, facial flushing, xerostomia, and dry skin. Which class of drugs is mostly responsible for his symptoms?

  1. Acetylcholinesterase

  2. Muscarinic antagonist

  3. Muscarinic agonist

  4. Adrenergic agonist

  5. Adrenergic antagonist

  • Muscarinic antagonist (Atropine is used to treat organophosphate poisoning, M3 and M2 blockade)

300

These are examples of drugs(given in your lectures) that inhibit cytochome p450.

Cimetidine, Erythromycin, Chloramphenicol, Grapefruit juice

cytochrome p450-responsible for breakdown of drugs.

Inhibition of cytochrome p450 -> slower metabolism of drugs and thus, drug conc. in blood could reach high levels.

400

The lacI gene encodes this protein that shuts the system down when lactose is not present

the repressor protein

The Lac Operon in bacteria is turned on (inducible) when lactose is added to the bacteria cell.

Once lactose binds, the isomer allolactose forms which binds to the repressor and takes it off, causing transcription.

400

A couple present to a genetic specialist because they are concerned about having a child with sickle cell anemia. They come from a region in africa where this autosomal recessive disease displays a psuedo-dominant inheritance. They're told that it is likely that they'll have a child with this disease. The normal treatment for sickle cell includes hydroxyurea which through an unknown mechanism upregulates fetal hemoglobin. Which of the following does hydroxyurea most likely inhibit?

  1. Conversion of xanthine to uric acid

  2. Conversion of ribonucleotide diphosphate to deoxyribonucleotide diphosphate

  3. Conversion of dihydrofolate to tetrahydrofolate

  4. Conversion of inosine monophosphate to guanosine monophosphate

  5. Conversion of hypoxanthine to insonine monophophate

  • Conversion of ribonucleotide diphosphate to deoxyribonucleotide diphosphate

400

A 21 year old man is brought to the emergency department unconscious after a night of heavy drinking. Physical examination shows absent breath sounds and an endotracheal tube is inserted. Which of the following drugs was given to ease this procedure?

  1. Botulinum Toxin

  2. Epinephrine

  3. Pyridostigmine

  4. Succinylcholine

  5. Tubocurarine

  • Succinylcholine

400

The blood brain barrier restricts these type of molecules...

polar molecules.

Bloodbrain barrier restricts polar molecules so drugs have to be liposoluble to enter CNA or have an active transporter.

500

DNA sites where proteins and trans regulatory elements will bind

Cis regulatory elements

(the transcription factors and proteins bind to these DNA sites to regulate transcription)

Follow up:

Think about what Trans regulatory elements are... (it was in the question)

500
Deficiency of this vitamin causes Scurvy, characterized by bleeding gums, hemorrhages and poor wound healing.

Vitamin C.

Causes decreased stability and strength of collagen.


500

One of your patients presents with chest pain. You do an EKG, and blood work that shows no evidence of a myocardial infarction. Because of her age and risk factors, you want to investigate the cardiac status further. The patient uses a walker and is unable to participate in a treadmill-based stress test. What can you giver to test the health of her heart?

  1. Isoproterenol

  2. Pindolol

  3. Dobutamine

  4. Propranolol

  5. Clonidine

Dobutamine (B1 agonist- increases myocardial O2 consumption. Basis of dobutamine stress echocardiogram)

                                                       


    

500

Main organ of drug metabolism

Liver