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Fall-Foundational Sciences Year 1 > Molecular Medicine > Flashcards

Molecular Medicine Flashcards

1
Q

molecular medicine

definition

A

application of molecular bio + biochem + genetics to diagnosis and treatment of disease

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2
Q

common cause of breast/ovarian cancer

A

BRCA1/2 mutations
breast lifetime risk w/mutation= 45-85%
ovarian lifetime risk w/mutation= 39-46% (1) or 10-27% (2)

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3
Q

PCR

A

amplify DNA by sep template strands then bind oligonucleotides (primers) for polymerase to extend/amplify b/t primers

shows known polymorphisms in selected regions, single genes/locus

olig can be allele specific

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4
Q

whole genome sequence

A

shows all SNPs, all mutations

more affordable and widely used, but remember 99% genome not expressed

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5
Q

exome

A

aka exon portion, the 1% of the genome that is actually expressed

whole exome sequencing

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6
Q

allele specific arrays

A

oligonucleotides bind just to WT or mutant sequence then fragment and label DNA

detect label by hybridization to mutant ASO indicates presence of mutation

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7
Q

DNA sequencing

A

determine nucleotide sequencing

  1. di-deoxy chain termination method - classic but only 1000 bp/reaction
  2. next generation sequencing - miniaturization of reactions, larger sequence length but challenging to reconstruct
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8
Q

SNP typing

A

only bits of genome that are known to vary

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9
Q

DNA methylation sequencing

A

bisulfite sequencing (coverts C to U) then PCR converts (U to T)

C bases that were converted to T were NOT methylated in og sample

tissue specific

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10
Q

FISH

A

hybridize labelled DNA probe to genomic DNA in interphase nucleus
-should be 2 fluorescent sites for autosomal loci
-3 loci = region is present in 3 copies (trisomy)
-1 loci = one copy (monosomy)

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11
Q

cancer-MGPT

A

MGPT (multigene panel testing) to determine seq of known oncogenes and tumor suppressors

classifications: pathogenic, likely patho, uncertain significance, likely benign, benign

can predict risk/prognosis/suggest treatment

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12
Q

prenatal diagnosis techniques

A
  1. chromosome analysis i.e karyotype/FISH (detects numerical and structural aberrations)
  2. exome sequencing (when karyotype is normal, single gene disorders)
  3. cell free fetal (maternal)

turnaround time critical for reprod decisions and intrauterine intervention

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13
Q

pharmacogenomics

A

develop an indiv drug treatment plan but response hard to predict with accuracy

i.e Warfarin (oral anticoagulant)

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14
Q

Warfarin

A

inhibits vitamin K epoxide reductase (VKORC1) so polymorphism affects sensitivity

metabolized by P450 enzyme (CYP2C9) so polymorphism affects sensitivity

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15
Q

considerations before testing

A
  1. what to do with info aka will it help prevent disease or worry pt
  2. who will have access- HIPAA, GINA (genetic discrim protection in employment and health insurance)
  3. incidental findings
  4. ethics
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16
Q

qRT-PCR

A

for RNA analysis, normal PCR not work
-reverse transcriptase (RNA > cDNA)

shows amount of a few select RNA molecules in sample

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17
Q

BRCA1 185delAG analysis

A

RNA missing 2 nucleotides
-transcript still presesnt
-not truncated transcript from stop codon

18
Q

protein analysis

A

use antibodies bc bind to antigens/proteins with high specificity

label/trace/precipitate antibodies

19
Q

monoclonal antibody production

A
  1. challenge an animal w/ antigen aka inject into a mouse
  2. isolate B cells (from spleen)
  3. fuse B cells with immortal myeloma cells (cancer cells)
  4. sep hybridoma cells
  5. select clone that produces best antibody
20
Q

ELISA

enzyme linked immuno sorbent assay

A

assay highly quantitative for proteins, not size or localization

sandwich ELISA for id antigens OR
indirect ELISA for id antibodies

21
Q

blotting technique

A

DNA (southern) or RNA (north) or proteins (western)
-shows size well and quantity (not as well)

  1. sep molecules in a gel
  2. transfer blot onto membrane
  3. detect molecule of interest
22
Q

western blotting

A

shows if protein is properly glycosylated (makes protein bigger)
or protein is cleaved

23
Q

mass spectroscopy

small molecules/metabolites

A

small moles ionized and sep by size

detector shows extremely accurate molecular weight so molecules id by weight

24
Q

molecular therapies

A

either target genes (replace defective or insert new) or proteins (antibodies destroy malignant cells)

25
Q

gene therapy

goal

A

aim to insert a functional copy of defective gene into genome thru viruses (DNA)

inc specificity with CRISPR/cas9 guide RNA

26
Q

gene therapy delivery system

A

must be efficient to reach as many cells as possible but safely
-cannot trigger fatal immune respone or transform into cancer cells

27
Q

ADA deficiency

A

adenosine deaminase deficiency = xs cellular dATP > inhibit DNA syn = SCID

recessive disorder so ideal for gene therapy bc will dissapear if heterozygous state

28
Q

ex vivo gene therapy

A
  1. isolate T cells from pt
  2. transfect w/ virus carrying normal gene (ex. ADA)
  3. select transfected T cells
  4. infuse pt
  5. test pt immune response
29
Q

CART

chimeric antigen receptor T cells

A

genetically engineered T cells detect and destroy cancer cells
-T cells from pt > transfect w/ lentiviral vector = chimeric receptor for tumor cell antigen so CART cells recognize lymphoblasts

acute lymphoblastic leukemia treatment

30
Q

cancer immunotherapy

naked antibodies

A

naked antibodies
1. bind to tumor cells and attract immune cells to destroy cancer
2. unblock immmune system
3. block receptors on cancer to shut off growth signals

31
Q

cancer immunotherapies

conjugated antibodies

A

can be radiolabelled or chemo-labelled to deliver cytotoxic drug into center of tumor

32
Q

karyotype analysis

A

only on nucleated dividing cells from amniotic fluid or chorionic villi

culture and stop in metaphase for test (2 weeks)

time consuming and expensive

33
Q

aneploid pregnancies

A

45, X + trisomy 18 + 13 usually lost
XXX/XXY/XYY + trisomy 21 chance to come to term (greater than 60%)

34
Q

complications of down syndrome

A
  1. congenital heart defect
  2. bowel obstruction
  3. hearing loss
  4. spinal problems
  5. eye abnormal
  6. leukemia and polycythemia
  7. cognitive impairment
  8. risk for alzheimer
35
Q

causes of down syndrome

A
  1. free trisomy 21 (nondisjunction, low recurrence, majority)
  2. translocation (recombination 14/21, high recurrence, aka familial DS)
  3. mosaicism (nondisjuction, low recurrence, unclear outcome)
36
Q

edwards syndrome

A

full trisomy 18

characteristic ultrasound findings

serious physical/mental disabilities
-heart defects can be surgery

second most common trisomy

37
Q

gynecomastia

A

hx of behavior problems(societal, not genetic), normal IQ, learning disabilities

-microordchidism + tall (95th percentile) + dev breast + high pitched voice
-infertile (azoospermia)

47, XXY (extra x/barr body, active Y so male)

klinefelter syndrome

38
Q

turner syndrome

A

infant: low posterior hairline + webbed neck + lymphedema + cardiac murmur

child: short, shield chest (SHOX), ovarian failure, horseshoe kidney, coarctation of aorta

45, X (affects females, high fetal loss from lymphatetic malformation)

39
Q

viable aneuploides

A

trisomy 21- down syndrome, most common
trisomy 18- edwards syndrome, rare but 10% survive
45,X - females, turners syndrome
47, XXY- male, klinefelter syndrome

40
Q

fragile X syndrome

A

CGG triplet expansion in 5’UTR of FMR1 gene (beyond 200 units = silence of FMR1 locus via methylation)

evident only in folate deficient media, use PCR or southern blotting

2nd most common cause of ID (down syn is 1st)

Fall-Foundational Sciences Year 1 (33 decks)

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