GENETICS Flashcards
MOA of Kartageners Disease
Ciliary dyskinesia due to Dynein protein defect,
Symptoms of Kartageners Disease
Male infertility, situs inversus, recurrent sinusitis/otitis, BRONCHIECTASIS.
Ehlers-Danlos syndrome deficiency?
symptoms?
Procollagen Peptidase
stretchy skin, hypermobile joints, short stature, connective tissue defects
How do inflammatory macrophages in the intima reduce plaque stability?
by secreting matalloproteinases, which degrade collagen
47 XXY
symptoms
Kleinfelter small firm testes azoospermia gynecomastia mild retardation
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
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)
Which DNA polymerase in Prokaryoktes has 5’ exonuclease activity?
ONLY DNA Polymerase 1
Indentification behavior
model behavior after someone percieved to be more powerful. Child of abusive father becomes a child abuser.
What “sense” must a naked RNA virus be to be infectious? name one such virus
single stranded positive stranded
Rhino virus
fragile X syndrome 3 characteristics:
MacroOrchidism
Large jaw
Large ears
Side effect of risperidone and other antipsychotics via anti-dopaminergic action?
What is it used for?
Hyperprolactinemia (amenorrhea, galactorrhea, breast soreness)
Schizophrenia
Laboratory findings of legionella pneumonia
Hyponatremia
Sputum Gram stain with many neutrophils, but no organisms (intracellular)
Name the uncommon manifestations of Turner syndrome (a.k.a. not short stature, primary amenorrhea, coarctation of the aorta)?
Cystic hygroma, lymphedema
What malignant conditions are associated with the EBV virus
Burkett lymphoma
Nasopharyngeal carcinoma
when does non–disjunction occur/ what is a risk factor?
maternal origin (incr., maternal age)
Meiosis
Other than trisomy what are other causes of down syndrome?
unbalanced robertsonian translocation
mosaicism
What is meconium ileus specific for?
Cystic fibrosis
What type of transmembrane protein is CFTR?
ATP gated chloride channel
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
Recombination v
Reassortment
Recombination=Crossing over
Reassortment=increasing mutagenicity (more virulent strains of flu) IN SEGMENTED VIRUSES
Xeroderma Pigmentosum defective enzyme?
UV ENDOnuclease
Mismatched basepairing defective=? what is the enzyme responsible for this
Heriditary Polyposis
3-5’ exonuclease
How is the rash from a type IV HSR mediated
Tcell lymphocytes DIRECTLY cause rash
