GENETICS

Question 1

MOA of Kartageners Disease

Answer 1

Ciliary dyskinesia due to Dynein protein defect,

Question 2

Symptoms of Kartageners Disease

Answer 2

Male infertility, situs inversus, recurrent sinusitis/otitis, BRONCHIECTASIS.

Question 3

Ehlers-Danlos syndrome deficiency?

symptoms?

Answer 3

Procollagen Peptidase

stretchy skin, hypermobile joints, short stature, connective tissue defects

Question 4

How do inflammatory macrophages in the intima reduce plaque stability?

Answer 4

by secreting matalloproteinases, which degrade collagen

Question 5

47 XXY

symptoms

Answer 5

Kleinfelter
small firm testes
azoospermia
gynecomastia
mild retardation

Question 6

VHL gene regulates?

what disease and outcome can occur?

Answer 6

transcription of HIF-1 (hypoxemia Inducible factor)
HIF-1=> INCR. VEGF + EPO (erythropoeitin)=> capillary hemangiomas

VHL disease can have pheochromocytomas

Question 7

How do MHC 1 v MHC 2 present Antigen (simple)

Answer 7

MHC1- Antigen presented by Self, tumor, or viral/ bacterial intracellular infection (ENDOGENOUS PATHWAY)
B2 Microglobulin associated

MHC Class 2- Antigen is presented by an APC that has degraded foreign particles and presented peptides as antigen on MHC class 2 (invariant chain associated)

Question 8

Which DNA polymerase in Prokaryoktes has 5’ exonuclease activity?

Answer 8

ONLY DNA Polymerase 1

Question 9

Indentification behavior

Answer 9

model behavior after someone percieved to be more powerful. Child of abusive father becomes a child abuser.

Question 10

What “sense” must a naked RNA virus be to be infectious? name one such virus

Answer 10

single stranded positive stranded

Rhino virus

Question 11

fragile X syndrome 3 characteristics:

Answer 11

MacroOrchidism
Large jaw
Large ears

Question 12

Side effect of risperidone and other antipsychotics via anti-dopaminergic action?

What is it used for?

Answer 12

Hyperprolactinemia (amenorrhea, galactorrhea, breast soreness)

Schizophrenia

Question 13

Laboratory findings of legionella pneumonia

Answer 13

Hyponatremia

Sputum Gram stain with many neutrophils, but no organisms (intracellular)

Question 14

Name the uncommon manifestations of Turner syndrome (a.k.a. not short stature, primary amenorrhea, coarctation of the aorta)?

Answer 14

Cystic hygroma, lymphedema

Question 15

What malignant conditions are associated with the EBV virus

Answer 15

Burkett lymphoma

Nasopharyngeal carcinoma

Question 16

when does non–disjunction occur/ what is a risk factor?

Answer 16

maternal origin (incr., maternal age)

Meiosis

Question 17

Other than trisomy what are other causes of down syndrome?

Answer 17

unbalanced robertsonian translocation

mosaicism

Question 18

What is meconium ileus specific for?

Answer 18

Cystic fibrosis

Question 19

What type of transmembrane protein is CFTR?

Answer 19

ATP gated chloride channel

Question 20

morphologic features of Diabetic nephropathy=3?

what drugs are used to treat this?

Answer 20

1-nodular glomerulosclerosis
2-difuse glomerulosclrosis
3-hyaline arteriolosclerosis

ACE inhibitors and ARBs

Question 21

Recombination v

Reassortment

Answer 21

Recombination=Crossing over

Reassortment=increasing mutagenicity (more virulent strains of flu) IN SEGMENTED VIRUSES

Question 22

Xeroderma Pigmentosum defective enzyme?

Answer 22

UV ENDOnuclease

Question 23

Mismatched basepairing defective=? what is the enzyme responsible for this

Answer 23

Heriditary Polyposis

3-5’ exonuclease

Question 24

How is the rash from a type IV HSR mediated

Answer 24

Tcell lymphocytes DIRECTLY cause rash

Question 25

What is the Enzyme & coenzyme of Succinate–> fumarate?

what is the precursor of the coenzyme?

Answer 25

Succinate dehydrogenase + FAD

Riboflavin (precursor to FMN + FAD)