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CMB 1 > 1 > Flashcards

1 Flashcards

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
Q

microtubules

A

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

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26
Q

phalloidin

A

actin specific drugs- stabilizes filaments leukocytes can no longer move

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27
Q

Cholchicine

A

microtubule specific prevents polymerisation-used for gout treatmnet

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28
Q

vinca alkaloid

A

microtubule drug, prevents polymerization used as anti cancer agents

29
Q

secondary cytoskeleton changes due to cell injury

A

lou gehrig(neurofilament accumulation)
alchoholic liver disease (keratin filaments)
alzeimer
HPV (KOILICYTOSIS)

30
Q

secondary cytoskeleton changes due to cell injury

A

cardiomyopathy
immotile cillary syndrom
epidermis bullod
progeria

31
Q

cell junctions

A

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
Q

laminin

A

sticky proteins that form the basal lamina and allows interation with the epithelium

33
Q

GAGS

A

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
Q

Collagen

A 
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
Q

diseases associated with Collagen

A

Scurvy:inhibited proline hydoxylation
osteaogenis imperfecta- incorrect collagen fibril assembly
dermatitis herpetiformis- antibodies against anchoring fibrils

36
Q

adhesive glycoproteins

A

Laminins

and fibronectin

37
Q

diseases associated with basal lamina

A

alports syndrome:gene mutations of collagen IV(develop renal disease)
Goodpastors syndromme: antibodies againt collagen type IV(very rapid)

38
Q

alpha helix

A

can be streched to add water

39
Q

beta sheet

A

cannot be streched, does not absorb water

beta turns= proline and glycine

40
Q

commitement

A

biochemical and genetic restriction on cell fate
2 steps
-specification
-determination

41
Q

Morphogens:

A

• 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
Q

Sonic hedgehog (SHH)

A
  • 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
Q

Holoprosencephaly

A

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
Q

(FGFR3) gene

A

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
Q

CHARGE syndrome

A

newly discovered eitiology CHD7 gene

  • colomba
  • heart defect
  • atresia choanea
  • retardation of growth/dev
  • ear abnormalities
  • genital abnormalities
46
Q

iPCR

A

combination of ELISA and realtime PCR to detect protein concentration at the 10^-15

47
Q

bDNA(branched DNA)

A

christmass tree model-amplification that is not PCR
capture protein
branche DNA amplifier
enzyme labeled probes

48
Q

Diagnostic Test parameters

A

sensitivity(positive) V specificity(negative
Accracy V precision
linear dynamic range for quantification

49
Q

Sensitivity calculation

A

True positives/(trues positives + false negatives)

50
Q

Specificity calculation

A

true negatives/(true negatives+false positives)

51
Q

Reciever operator characteristic curve ROC curve

A

the grpahical trade off between false negatives and false positives. 1/specificity on X axis and 1/sensitivity on Y axsis

52
Q

melting curve analysis and Tm

A

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
Q

Bio bare code assay (BCA)

A

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
Q

applications of indivdual molecular testing in individualized medcicine

A

1-Theragnositcs= to prescribe ornot
2-pharmacogenomics=dosage
3-prognomics=predict out come of treatement

55
Q

structural chromosomal abnormalities

A

1-deletion
2-duplication
3-inversion
4-translocations

56
Q

wolf hischhorn syndrome

A 
4p deletion
microcephaly
low birth wiehgt
heart probs
fish probes used for diagnosis
57
Q

trisomy 18

A 
(47, +18) Edwards Syndrome
omphalacele
congenital heart disease 
clenched hands- limb anomalies
high lethality with profound abnormalities in survivors
58
Q

trisomy 13

A 
Patau Syndrome
midline facial clefts
holoproencephale 
congenital heart disease
kidney cysts
larger chromosome than 18 so even fewer survivors
59
Q

prader willi

A 
paternal 15q
hypotonia
food
learning disabilities
underdevelopped sex organs
60
Q

FISH prob

A

flurorescence to detect microdeletion that cannot be seen on a karyotype
method of choice for balanced abnormalities

61
Q

Digeorge

A 
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
Q

Comparative Genome hybridisation (CGH)

A

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
Q

Pallister killian

A 
12p disorder
lethal if not mocaisism
scarce scalp hair 
streaky pigmentation
profound mental retardation
64
Q

genes that can be imprinted

A

6 7 11 14 15

65
Q

4 Paths to uniparental disomy

A

1-gamete complementation
2-trisomic rescue
3-monosomic rescue(nullesomic gamte is created during meiosis= results in isodisomy)
4- mitotic errors

66
Q

Fragile X syndrome

A 
unstable trinucleotide repeats - accumulation of CpG repreats
unstabile maternal allele
hyperextendible joints 
large ears
macrocephaly
67
Q

huntingtons diseases

A

unstable trinucleotide repeats on paternal allele

68
Q

anticipation

A

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
Q

Enzymes- stabilization of the transition state

A

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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