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1
Q

Rifampacin

A

binds beta subunit on porkaryotic RNA polymerase and inhibits clearing of the promoter

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2
Q

Puromycin

A

inhibits translocation, early chain termination AA tRNA analog

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3
Q

Tetracyclines

A

blocks A site in pokaryotes 30S

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4
Q

Chloramphenicol

A

inhibits prokaryotic peptidyl transferase in prokaryotes

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5
Q

Cycloheximide

A

inhibits peptidyl transferase in eukaryotes

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6
Q

Streptomycin

A

inhibits initiation of translation in prokaryotes distorts mRNA causes misreading

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7
Q

diphteria toxin

A

inhibits eEF2 in eukaryotic translation

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8
Q

Ricin

A

binds to eukaryotic 60S subunit

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9
Q

alpha amatin

A

inhibits eukaryotic pol 2 and pol 3 to a certain extent

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10
Q

actinomycin D

A

inserts between CG in both eukaryotes and prokaryotes inhibiting elongation of transcription

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11
Q

RAS

A

G protein family, mutated in 30% of all cancers active form is bound to GTP control transcription- in cancer cells is always on

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12
Q

Protoncogene

A

EGFR,

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13
Q

IRESSA

A

drug that binds to the same part of EGFR as ATP, prevents growth signal from being sent to the nucleus CANCER treatement for oncogene EGFR lung cancer

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14
Q

Tumor supressor gene

A

p53-active form inhibits cell cycle. DNA repair and appopstosis
50% of cancers p 53- prevents continuation of cell cycle until DNA is repaired and also induces apoptosis

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15
Q

Care takers or stability genes

A

Group 1- Minor mistakes MMS,NER ,BER

Group 2-control processes involving large portion of chromosomes BRCA,ATM, BLM

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16
Q

types of breast cancer

A

Luminal A- Pt+Er+ HER -
Lumnial B- Pt+ Er+ HER+
HER 2- Pt-ER- HER+
basal like-ER-PT- HER-

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17
Q

Lac Operon

A

LacI repressor
CRP-CAMP binding to activating promoter site
LAC ZYA- weak promoter(-35 -10)

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18
Q

Tryptophan operon

A

Trp-R repression of initiation
Trp L- leader
Operator- Binding site for Trp- R

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19
Q

Euploidy

A

a multiple

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20
Q

aneuploidy

A

trisomy or monosomy not an exact multiple

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21
Q

KLinefelter syndrome

A

XXY
tall
hypogonadism and sterility

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22
Q

Turners syndrome

A 
X
short stature 
webbed neck 
underdevelopped ovaries
sterility
40% are mosaicisms
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23
Q

intermediate filaments

A

tissue stability over cell stability
staining used in cancer detection
they branch
desmasmoses/ hemidesmosomes
phsophorylation dependant not ATP or GTP- no polarity
support nuclear lamina (lamins)
keratins-epithelium/vimentins (Desmin-muscle)/neural/lamin-nuc envelope

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24
Q

actin filaments

A

cell curface organisaton can be linear to 3 D
branching
in microvilli, zona adherens
ATP dependant ant polarized
Elongation mediated by formins
cross packing for myosin 2 interaction/tight packing (fimbrin) to avoid allowinbg myosin 2 to enter and avoid contraction
ZONULA ADHERENS(dev of tubes and ducts)

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25
microtubules
cell highways MTOC ( centrosomes and basal bodies ) hollow tube GTP dependent and polarized- DYNAMIC INSTABILITY cell division cillia Liable/stable tubulin heterodimer MAPS- Capping proteins (CATASTROPHINS opposite of MAPS lead to microtubule instability) MBPS-dynein and kinesin
26
phalloidin
actin specific drugs- stabilizes filaments leukocytes can no longer move
27
Cholchicine
microtubule specific prevents polymerisation-used for gout treatmnet
28
vinca alkaloid
microtubule drug, prevents polymerization used as anti cancer agents
29
secondary cytoskeleton changes due to cell injury
lou gehrig(neurofilament accumulation) alchoholic liver disease (keratin filaments) alzeimer HPV (KOILICYTOSIS)
30
secondary cytoskeleton changes due to cell injury
cardiomyopathy immotile cillary syndrom epidermis bullod progeria
31
cell junctions
1-occluding (proteins :Claudin and Occluden) 2-adhering ( microfilament-adherens junction (cell-cell protein: cadherins) and focal adherens(cell-matrix protein: fibronectin) and intermediate filaments- desmesome (Keratin Filaments protein:cadherens(abnormal desmosomes leads to Pemphyvus vulgaris, sever blisering) and hemidesmosome Protein: Integrin Bullos Pemphigoid- subemidermal blisters) 3- communicating -cap junctions (close with Ca+ high or pH low) Defect leads to infertility
32
laminin
sticky proteins that form the basal lamina and allows interation with the epithelium
33
GAGS
4 types 1-hyoluron:most connective tissues(only one not attached to a core protein all others make BRUSH) 2-Chondroitin/Dermatin Sulfate: Cartilage and skin ( related to aging) 3-Heparan sulfate: Basal Lamina 4-Keratin Sulfate: Cornea and cartilage
34
Collagen
``` 25% ECM-rich in proline and glycine form intra and inter covalent crosslinks within colagen fibril network forming -type IV ( basal lamina) -type VII(anchoring fibrils) ```
35
diseases associated with Collagen
Scurvy:inhibited proline hydoxylation osteaogenis imperfecta- incorrect collagen fibril assembly dermatitis herpetiformis- antibodies against anchoring fibrils
36
adhesive glycoproteins
Laminins | and fibronectin
37
diseases associated with basal lamina
alports syndrome:gene mutations of collagen IV(develop renal disease) Goodpastors syndromme: antibodies againt collagen type IV(very rapid)
38
alpha helix
can be streched to add water
39
beta sheet
cannot be streched, does not absorb water | beta turns= proline and glycine
40
commitement
biochemical and genetic restriction on cell fate 2 steps -specification -determination
41
Morphogens:
• Produce a diffusible signal/stimulus for development • Produced at one location: morphogen concentrations are high near the source, decrease with increased distance from source • Morphogen concentration affects impact on development EX- Sonich hedgehog
42
Sonic hedgehog (SHH)
* The SHH receptor is PTCH1 * SHH is produced in the posterior region of the developing hand, concentrations decrease as a gradient away from the source. Thus, high SHH is a signal for posterior identity, low SHH is a determinant of the anterior portion of the hand. * Unoccupied PTCH receptor (i.e. no SHH) suppresses another cell surface molecule: SMO (“smoothened”). This allows a cytoplasmic precursor for a transcription factor GLI1/2 to be phosphorylated by PKA, an event which is then permissive for proteolytic cleavage of GLI1/2 to a transcriptional repressor. The GLI1/2 repressor translocates to the nucleus for transcription repression. * Binding of SHH to PTCH prevents the above-mentioned suppression of SMO. SMO is now free to suppress PKA, which in turn prevent the proteolytic cleavage of GLI1/2. In its uncleaved form, GLI1/2 is a transcriptional activator.
43
Holoprosencephaly
is a syndrome caused by inactivating mutations in SHH. • SHH is expressed in the notochord, floorplate and is essential for midline neural structures. • Holoprosencephaly is a dominant trait, but with variable penetrance. • Severe form: microcephaly, cleft palate, hypotelorism (narrowly-set eyes) • Mild: single central incisor
44
(FGFR3) gene
FGFR3 is unique in that it is actually a suppressor of bone growth. An FGFR3 mutation associated with achondroplasia is G380R, which is not inactivating but rather activating: it causes constitutive activation of the tyrosine kinase function of FGFR3. Constitutive activation of this receptor leads to constant inhibitory signaling during bone growth, explaining the shortening of long bones associated with the disorder.
45
CHARGE syndrome
newly discovered eitiology CHD7 gene - colomba - heart defect - atresia choanea - retardation of growth/dev - ear abnormalities - genital abnormalities
46
iPCR
combination of ELISA and realtime PCR to detect protein concentration at the 10^-15
47
bDNA(branched DNA)
christmass tree model-amplification that is not PCR capture protein branche DNA amplifier enzyme labeled probes
48
Diagnostic Test parameters
sensitivity(positive) V specificity(negative Accracy V precision linear dynamic range for quantification
49
Sensitivity calculation
True positives/(trues positives + false negatives)
50
Specificity calculation
true negatives/(true negatives+false positives)
51
Reciever operator characteristic curve ROC curve
the grpahical trade off between false negatives and false positives. 1/specificity on X axis and 1/sensitivity on Y axsis
52
melting curve analysis and Tm
1-denaturing 2-tm when dsDNA-ssDNA 3-every DNA sequence has a characteristic melting curve and TM cause it has a specific CG amount 4-single nucleotide mutation can result in a change in Tm also used in homozygous V heterozygous mutation analysis
53
Bio bare code assay (BCA)
Using gold nanoparticle Sandwich Meat in the middle is what you aretrying to detect Magnetic particle And on the other side the gold particule and the BAR code dna Built DNA into the bar code Put a magnet - everything will go to that direction- enrichement Then denature and the bare code can go through the scanner Detection limit zepotmolar 10^-21 PCR competitor would be able to detect several diseases at a time
54
applications of indivdual molecular testing in individualized medcicine
1-Theragnositcs= to prescribe ornot 2-pharmacogenomics=dosage 3-prognomics=predict out come of treatement
55
structural chromosomal abnormalities
1-deletion 2-duplication 3-inversion 4-translocations
56
wolf hischhorn syndrome
``` 4p deletion microcephaly low birth wiehgt heart probs fish probes used for diagnosis ```
57
trisomy 18
``` (47, +18) Edwards Syndrome omphalacele congenital heart disease clenched hands- limb anomalies high lethality with profound abnormalities in survivors ```
58
trisomy 13
``` Patau Syndrome midline facial clefts holoproencephale congenital heart disease kidney cysts larger chromosome than 18 so even fewer survivors ```
59
prader willi
``` paternal 15q hypotonia food learning disabilities underdevelopped sex organs ```
60
FISH prob
flurorescence to detect microdeletion that cannot be seen on a karyotype method of choice for balanced abnormalities
61
Digeorge
``` most frequently ordered FISHprobe test deletion on 22q just bellow centromere cardiac hypocalcemia dev delays cleft palate variable expressivity goes from one generation to the next ```
62
Comparative Genome hybridisation (CGH)
microarray tech usepatient DNA and control DNA and unlike FISH you dont need to know what your target is on the chromosome uses ratios to detect GENETIC UNBALANCE
63
Pallister killian
``` 12p disorder lethal if not mocaisism scarce scalp hair streaky pigmentation profound mental retardation ```
64
genes that can be imprinted
6 7 11 14 15
65
4 Paths to uniparental disomy
1-gamete complementation 2-trisomic rescue 3-monosomic rescue(nullesomic gamte is created during meiosis= results in isodisomy) 4- mitotic errors
66
Fragile X syndrome
``` unstable trinucleotide repeats - accumulation of CpG repreats unstabile maternal allele hyperextendible joints large ears macrocephaly ```
67
huntingtons diseases
unstable trinucleotide repeats on paternal allele
68
anticipation
phenomen in which the severity of a genetic condtion becomes more severe and earlier on set through subsequent generations ex:Fragile X and Huntingtons
69
Enzymes- stabilization of the transition state
1 provide hydrogen bonds 2- provide hydrophobic interactions 3- neutralize charge( ionic interations) 4-chemistry( the serine proteases use covalent chemistry for the formation of the acyl-enzyme intermdiate as well as general acid/base catalysis

CMB 1 (2 decks)

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