Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/79

Click to flip

79 Cards in this Set

  • Front
  • Back
Which HLA association?

ankylosing spondylitis
HLA-B27
Which HLA association?

psoriatric arthritis
HLA-B27
Which HLA association?

IBD
HLA-B27
Which HLA association?

Reiter
HLA-B27
Which HLA association?

Goodpasture
HLA-DR2
Which HLA association?

SLE
HLA-DR2/3
Which HLA association?

DM1
HLA-DR2 = decreased risk
HLA-DR3/4= increased
Which HLA association?

celiac sprue
HLA-DR3
Which HLA association?

phemphigus vulgaris
HLA-DR4
Which HLA association?

RA
HLA-DR4
Which HLA association?

lyme ass arthritis
HLA-DR4
Which HLA association?

steroid responsive nephrotic syndrome
HLA-DR7
Which chromo and what tumors?

APC
5q

fam. polyposis coli, colon ca
Which chromo and what tumors?

WT-1
11p

Wilms tumor
Which chromo and what tumors?

RB
13q

retinoblastoma, osteosarcoma, some breast/lung/prostate/bladder ca
Which chromo and what tumors?

NF-1
17q

Neurofibromatosis
Which chromo and what tumors?

p53
17q

loads, li-fraumeni syndrome
Which chromo and what tumors?

BRCA-1
17q

breast/ovarian ca
Which chromo and what tumors?

DCC
18q

colon, gastric
Which chromo and what tumors?

DPC
18q

Pancreas
Which chromo and what tumors?

NF-2
22q

Neurofibromatosis 2
(bilateral acoustic neuromas -> rule of 2)
Which chromo and what tumors?

VHL
3

Von Hippel-Lindau, hemangioblastomas
Which band in muscle stays they same size during contraction and which doesn't
same=A band (thick myosin and thin overlap area)

contr=I band (thin actin)

nb: middle I=Z-line
A only thick= H zone
What are calnexin and calreticulin?
quality control chaperones: bind to oligosacch containing terminal glu residues (added if proteins are misfolded)

In RER. Desination proteasome instead of golgi
Where?

Protein sorting and packaging
golgi
Where?

Addition of mannose-6- to protein
golgi (destination lysosomes)
Where?
synthesis proteins for lysosomes
rer
Where?

Synthesis proteins for peroxisome
free polysomes
Where?

synthesis triglycerides, phospholipids, sterols
ser
Where?

tonofilaments
=intracellular keratin intermediate filaments

connect desmosomes in epidermal cells
Where?

occludin
tight junctions of zona occludens
Where?

desmoglein
transmembrane cadherin in desmosomes (#pemphigus vulgaris)
How?

propulsion of sperm
flagella
What use?

clathrin
receptor mediated endocytosis (coated pits)
golgi to lysosomes
Where?

connexons
gap junction
Where?

dna degradation
lysosomes
Where?

beta oxidation very long chain fatty acids
peroxisomes
Where?

pattern of small interconnecting ridges
sealing strands - zona occludens
Where?

e-cadherin
critical for formation entire junctional complex between cells
Where?

desmoplakin
intracellular portion hemidesmosome
Where?
cytokeratin
epithelial cells
Where?
desmin
striated skeletal muscle
Which tissue contains:

spectrin and ankyrin
RBC
Which tissue contains:

titin
muscle: component sarcomere
Which tissue contains:

vimentin
connective tissue
Which tumor marker?

melanoma, astrocytoma, schwannoma
s-100
what do microvilli contain?
myosin (actin)
What marker can be measured in:
neuroblastoma, small cell ca, gastric ca, pancreatic ca
Bombesin
What substances form bilayer vesicles instead,droplets, and micelles in water?
phospholipids and sphingolipids -> amphipathic -> bilayer

cholesterol esters and triglycerides are hydrophobic -> droplets

Long fatty acids -> micelles
What is heteroplasmy?
In 1 individual there are normal and mutated mitochondrial DNA molecules
What is pleiotropy?
A single gene mutation can have various phenotypic outcomes.

E.g. RB gene#: retinoblastoma and osteosarcoma
What DNA binding proteins are there? (4)
1) homeodomain = helix-turn-helix
OCT1/2
PIT-1: TSH/PRL/GH gene expression

2) Leucine zipper
C/EBP: albumin, alpha-1-antitrypsin
CREB: somatostatin, proenkephalin
Fos: cell cycle
Jun: proto-onco

3) HLH=helix-loop-helix
MyoD: muscle
Myc: protoonco

4) Zinc finger (helix, zinc, cysteine)
TFIIa, Sp-1 : polym II attach to promotor
Receptor glucocort/E/P/thyr/ret acid/ vitD
How can you describe linkage between loci?
No link:
50 centimorgan, 0.5 recombination fraction (50% chance of crossover), LOD<-2

High linkage: 0 cm, 0% crossover, LOD>3
How do you calculate disease frequency and mutation frequency?
Aut. dom: D/N and D/2N
X res: D/N and D/3N
What oncogenes do you know?
class 1: PDGF
sis = astrocytoma, osteosarcoma

class2: EGFR
Erb1= squamous lung ca
Erb2=breast/ovary/lung/stomach

Class 3: signaling
Tyrosine kinase:
src= rous sarcoma
abl= AML, ALL
G-protein
ras= 15%, esp lung (25%), colon (50%), pancreas (90%)

class 4: nuclear transcription
Leucine zipper:
Fos= finkel...osteosarcoma
jun= avian sarcoma
HLH
n-myc= neuroblastoma
myc= burkitt
Retinoic acid R
pml/rar= promyelo AML
What is the function of chaperone proteins hsp70 and hsp60?
carry proteins into the mitochondrium in unfolded form
What is the function of cdk2-cyclin ABDE?
A/B: check DNA at end of G2
D/E: check DNA at end of G1
What IC signals are used by ANP and NO
increase GMP ->protein kinase G
What IC signals are used by TGF beta?
serine threonine kinase
What IC signals are used by CD45
tyrosine phosphatase
What IC signals are used by GFs
tyrosine kinase -> SH2 -> SOS -> RAS -> RAF -> MAP kinase
What is the difference between transversion, substitution and transition
Substitution= altered AA

transition= pyr-pyr or pur-pur
transversion= pyr - purine
Where?

Collage type I
skin
bone
tendon
ligaments
teeth
sclera
fascia
organ capsules
Where?

Collage type 2
cartilage
intervertebral disc
Where?

Collage type 3
organ connective tissue (reticular system)
smooth muscle
blood vessels

nb ehlers-danlos type IV
Where?

Collage type 4
epithelial and endothelial basal lamina
glomeruli
lens
What microfibril is associated with elastin?
fibrillin
What binds type 1 collagen and is responsible for bone crystallization?
osteonectin
What glycoprotein connects the basal lamina to type IV collagen and laminin?
entactin
What protein connects molecules to the cytoskeleton, is produced by connective tissue cells and forms migration tracks for other cells?
fibronectin
What is the difference between the cis, trans and golgi cistern?
cis: near rer
trans: final protein sorting

cistern: glycosylation of packaged proteins
Where in the mito is
1) fa oxidation
2) binding of cations
3) atp
1) matrix
2) granules (mg, ca)
3) cisternae
Where do SRPs bind?
rer
what are caveolin vesicles used for
transcytosis
which organelle replicates by fission
peroxisome
where can you find Gt proteins?
eye: rhodopsin -> decreases cGMP
What binds the cell to the ecm?
intergrin
Which HLA association?

pernicious anemia
HLA-DR5
Which HLA association?

Hashimoto
HLA-DR5