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79 Cards in this Set
- Front
- Back
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Which HLA association?
ankylosing spondylitis |
HLA-B27
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Which HLA association?
psoriatric arthritis |
HLA-B27
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Which HLA association?
IBD |
HLA-B27
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Which HLA association?
Reiter |
HLA-B27
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Which HLA association?
Goodpasture |
HLA-DR2
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Which HLA association?
SLE |
HLA-DR2/3
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Which HLA association?
DM1 |
HLA-DR2 = decreased risk
HLA-DR3/4= increased |
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Which HLA association?
celiac sprue |
HLA-DR3
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Which HLA association?
phemphigus vulgaris |
HLA-DR4
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Which HLA association?
RA |
HLA-DR4
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Which HLA association?
lyme ass arthritis |
HLA-DR4
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Which HLA association?
steroid responsive nephrotic syndrome |
HLA-DR7
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Which chromo and what tumors?
APC |
5q
fam. polyposis coli, colon ca |
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Which chromo and what tumors?
WT-1 |
11p
Wilms tumor |
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Which chromo and what tumors?
RB |
13q
retinoblastoma, osteosarcoma, some breast/lung/prostate/bladder ca |
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Which chromo and what tumors?
NF-1 |
17q
Neurofibromatosis |
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Which chromo and what tumors?
p53 |
17q
loads, li-fraumeni syndrome |
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Which chromo and what tumors?
BRCA-1 |
17q
breast/ovarian ca |
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Which chromo and what tumors?
DCC |
18q
colon, gastric |
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Which chromo and what tumors?
DPC |
18q
Pancreas |
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Which chromo and what tumors?
NF-2 |
22q
Neurofibromatosis 2 (bilateral acoustic neuromas -> rule of 2) |
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Which chromo and what tumors?
VHL |
3
Von Hippel-Lindau, hemangioblastomas |
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Which band in muscle stays they same size during contraction and which doesn't
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same=A band (thick myosin and thin overlap area)
contr=I band (thin actin) nb: middle I=Z-line A only thick= H zone |
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What are calnexin and calreticulin?
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quality control chaperones: bind to oligosacch containing terminal glu residues (added if proteins are misfolded)
In RER. Desination proteasome instead of golgi |
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Where?
Protein sorting and packaging |
golgi
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Where?
Addition of mannose-6- to protein |
golgi (destination lysosomes)
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Where?
synthesis proteins for lysosomes |
rer
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Where?
Synthesis proteins for peroxisome |
free polysomes
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Where?
synthesis triglycerides, phospholipids, sterols |
ser
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Where?
tonofilaments |
=intracellular keratin intermediate filaments
connect desmosomes in epidermal cells |
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Where?
occludin |
tight junctions of zona occludens
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Where?
desmoglein |
transmembrane cadherin in desmosomes (#pemphigus vulgaris)
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How?
propulsion of sperm |
flagella
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What use?
clathrin |
receptor mediated endocytosis (coated pits)
golgi to lysosomes |
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Where?
connexons |
gap junction
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Where?
dna degradation |
lysosomes
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Where?
beta oxidation very long chain fatty acids |
peroxisomes
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Where?
pattern of small interconnecting ridges |
sealing strands - zona occludens
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Where?
e-cadherin |
critical for formation entire junctional complex between cells
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Where?
desmoplakin |
intracellular portion hemidesmosome
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Where?
cytokeratin |
epithelial cells
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Where?
desmin |
striated skeletal muscle
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Which tissue contains:
spectrin and ankyrin |
RBC
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Which tissue contains:
titin |
muscle: component sarcomere
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Which tissue contains:
vimentin |
connective tissue
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Which tumor marker?
melanoma, astrocytoma, schwannoma |
s-100
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what do microvilli contain?
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myosin (actin)
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What marker can be measured in:
neuroblastoma, small cell ca, gastric ca, pancreatic ca |
Bombesin
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What substances form bilayer vesicles instead,droplets, and micelles in water?
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phospholipids and sphingolipids -> amphipathic -> bilayer
cholesterol esters and triglycerides are hydrophobic -> droplets Long fatty acids -> micelles |
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What is heteroplasmy?
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In 1 individual there are normal and mutated mitochondrial DNA molecules
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What is pleiotropy?
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A single gene mutation can have various phenotypic outcomes.
E.g. RB gene#: retinoblastoma and osteosarcoma |
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What DNA binding proteins are there? (4)
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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 |
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How can you describe linkage between loci?
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No link:
50 centimorgan, 0.5 recombination fraction (50% chance of crossover), LOD<-2 High linkage: 0 cm, 0% crossover, LOD>3 |
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How do you calculate disease frequency and mutation frequency?
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Aut. dom: D/N and D/2N
X res: D/N and D/3N |
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What oncogenes do you know?
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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 |
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What is the function of chaperone proteins hsp70 and hsp60?
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carry proteins into the mitochondrium in unfolded form
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What is the function of cdk2-cyclin ABDE?
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A/B: check DNA at end of G2
D/E: check DNA at end of G1 |
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What IC signals are used by ANP and NO
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increase GMP ->protein kinase G
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What IC signals are used by TGF beta?
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serine threonine kinase
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What IC signals are used by CD45
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tyrosine phosphatase
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What IC signals are used by GFs
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tyrosine kinase -> SH2 -> SOS -> RAS -> RAF -> MAP kinase
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What is the difference between transversion, substitution and transition
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Substitution= altered AA
transition= pyr-pyr or pur-pur transversion= pyr - purine |
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Where?
Collage type I |
skin
bone tendon ligaments teeth sclera fascia organ capsules |
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Where?
Collage type 2 |
cartilage
intervertebral disc |
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Where?
Collage type 3 |
organ connective tissue (reticular system)
smooth muscle blood vessels nb ehlers-danlos type IV |
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Where?
Collage type 4 |
epithelial and endothelial basal lamina
glomeruli lens |
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What microfibril is associated with elastin?
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fibrillin
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What binds type 1 collagen and is responsible for bone crystallization?
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osteonectin
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What glycoprotein connects the basal lamina to type IV collagen and laminin?
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entactin
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What protein connects molecules to the cytoskeleton, is produced by connective tissue cells and forms migration tracks for other cells?
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fibronectin
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What is the difference between the cis, trans and golgi cistern?
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cis: near rer
trans: final protein sorting cistern: glycosylation of packaged proteins |
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Where in the mito is
1) fa oxidation 2) binding of cations 3) atp |
1) matrix
2) granules (mg, ca) 3) cisternae |
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Where do SRPs bind?
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rer
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what are caveolin vesicles used for
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transcytosis
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which organelle replicates by fission
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peroxisome
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where can you find Gt proteins?
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eye: rhodopsin -> decreases cGMP
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What binds the cell to the ecm?
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intergrin
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Which HLA association?
pernicious anemia |
HLA-DR5
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Which HLA association?
Hashimoto |
HLA-DR5
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