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Flashcards in GENETICS Deck (25)
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1

MOA of Kartageners Disease

Ciliary dyskinesia due to Dynein protein defect,

2

Symptoms of Kartageners Disease

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

3

Ehlers-Danlos syndrome deficiency?
symptoms?

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

4

How do inflammatory macrophages in the intima reduce plaque stability?

by secreting matalloproteinases, which degrade collagen

5

47 XXY
symptoms

Kleinfelter
small firm testes
azoospermia
gynecomastia
mild retardation

6

VHL gene regulates?
what disease and outcome can occur?

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

VHL disease can have pheochromocytomas


7

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

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)

8

Which DNA polymerase in Prokaryoktes has 5' exonuclease activity?

ONLY DNA Polymerase 1

9

Indentification behavior

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

10

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

single stranded positive stranded
Rhino virus

11

fragile X syndrome 3 characteristics:

MacroOrchidism
Large jaw
Large ears

12

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

What is it used for?

Hyperprolactinemia (amenorrhea, galactorrhea, breast soreness)

Schizophrenia

13

Laboratory findings of legionella pneumonia

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

14

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

Cystic hygroma, lymphedema

15

What malignant conditions are associated with the EBV virus

Burkett lymphoma
Nasopharyngeal carcinoma

16

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

maternal origin (incr., maternal age)

Meiosis

17

Other than trisomy what are other causes of down syndrome?

unbalanced robertsonian translocation
mosaicism

18

What is meconium ileus specific for?

Cystic fibrosis

19

What type of transmembrane protein is CFTR?

ATP gated chloride channel

20

morphologic features of Diabetic nephropathy=3?

what drugs are used to treat this?

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

ACE inhibitors and ARBs

21

Recombination v

Reassortment

Recombination=Crossing over

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

22

Xeroderma Pigmentosum defective enzyme?

UV ENDOnuclease

23

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

Heriditary Polyposis

3-5' exonuclease

24

How is the rash from a type IV HSR mediated

Tcell lymphocytes DIRECTLY cause rash

25

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

what is the precursor of the coenzyme?

Succinate dehydrogenase + FAD

Riboflavin (precursor to FMN + FAD)