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Unit 2 M2M > Unit 2 Day 3 > Flashcards

Unit 2 Day 3 Flashcards

1
Q

chromosome and fish studies are impt. in investigating what?

A

leukemia and lymphoma

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2
Q

choromosome microarray

A

standard of complementary to chromosome and fish studies

for individuals with developmental delays

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3
Q

what specimens are used in cytogenetic studies?

A

bone marrow
blood (unstimulated, constitutional)
tissue (lymph node, solid tumor, poc)
fluids (CNS, amniotic fluid)

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4
Q

what tissues are used in cancer diagnostics

A 
bone marrow
unstimulated blood
lymph node
solid tumor
CNS
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5
Q

FISH

A 
fluorescence in situ hybridization
single strand probes
diffusion signals
specific, cloned DNA sequences that enumerate # of specific chromosomes or identify translocations
~200kbp
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6
Q

types of fish probes?

A

centromere (identifies enumeration)
dual fusion, fusion (identifies translocation)
also: locus specific, break apart, whole chromosome paint

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7
Q

chromosomal in cancer translocations can result in

A

usually balanced
can end up in site with strong promoters-overexpressed
novel protein creation

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8
Q

where are APMLs seen?

A

acute myeloid leukemia

granular clumps that form elongated “needles”

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9
Q

what is AML?

A

acute melodeons leukemia
adults, sometimes children/young adults
translocation 15;17 or translocation 9;22

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10
Q

how do you treat APML?

A

vitamin a treatment puts into transmission
cleaves conformation of the novel protein that is preventing downstream transcription-allows differentiation to go through

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11
Q

What is CML?

A

chronic myeloid leukemia
has large lobulated cells
packed bone marrow

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12
Q

how do you treat CML?

A

targeted, biological therapies
molecular antagonists that bind ATP binding site in abl tyrosine kinase and bcr/abl tyrosine kinase
inhibits cell proliferation

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13
Q

what is the risk for cancer in DS patients?

A

infants and children have 20-100 fold elevated risk for ALL or AML
500x’s more likely to get AMKL

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14
Q

what is CMA?

A 
Chromosomal Microarray
target DNA on slide/chip
single stranded oligomers
detects gains/losses only
limited mosaicism detection  (10-15%)
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15
Q

what are the advantages of CMA?

A

can detect “submicroscopic” gains and losses not seen in FISH
detects hot spot abnormalities
detect abnormalities in backbone of genome
characterize chromosomal anomalies by karyotyping

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16
Q

CNV

A

copy number variant

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17
Q

CNC

A

copy number change

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18
Q

what does CMA report?

A

size, location of deletions/duplications
thresholds of deletions are >200kb, duplications >400kb
evaluate ROH
cannot detect mosaicism, hterodisomy, balanced chromosome rearrangements

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19
Q

Causes of DS

A 
trisomy 21 (95% of patients)
unbalanced translocation btw. 21 and acrocentric chromosome (3-4% patients)
mosaic tri 21 (1-2% patients), milder phenotype
20
Q

prenatal counseling approach for DS

A
  • caused by nondisjunction error
  • risk increases with maternal age
  • 1st trimester prenatal screening (1st trimester, ultrasound measures) (82-87% detection)
  • 2nd trimester screening (80% detection), quad screen, unconjugated estriol, inhibit level, ultrasound
  • if screen 1st and 2nd, 95% detection
21
Q

common medical issues of DS

A
  • cardiac issues in 50% patients (Atrioventricular canal, but any heart defect)
  • gastrointestinal (10-15% structural anomalies, functional GI issues)
  • ophthalmic (v. common)
  • ENT problems
  • Endocrine problems
  • ortho problems
  • hematologic issues
  • neurologic issues
22
Q

developmental issues DS

A
  • hypotonia and gross motor defects
  • spectrum of intellectual disabilities
  • speech issues
23
Q

what is the spectrum for disability development?

A

profound (don’t develop past baby)
severe (talk, but not well)
moderate (develop at 1/3 normal rate)
mild (develop at 2/3 normal rate)

24
Q

Prader-Willi Syndrome medical issues

A

eyes (strabismus, nystagmus)
ortho (scoliosis)
respiratory (sleep apnea, contraindicates of HGH)
developmentally (mild-mod. cognitive disabilities)

25
Q

Chromosome 15Q abnormalities

A

marker chromosomes-inverted duplication
interstitial duplication
deletions (angleman syndrome)
-linkage disequelibrium btw. pts w/ autism and plymorphism on GaBa-b3 locus on 15q.

26
Q

15q11-q13 anomalies

A

maternally derived
supernumerary marker chromosomes
phenotype: autistic, not dysmorphic, hypotonic, seizures

27
Q

is 15q maternally derived?

A

Yes

28
Q

angelman syndrome

A

15q deletion from PWS/AS region from maternal allele
detect FISH
imprinting errors seen with methylation studies
mildly dysmorphic features, hypotonia, spasticity, seizures, autism

29
Q

What abnormalities are found on Chromosome 15?

A 
Prader Willi (paternal deletion)
angelman (maternal deletion)
IDIC 15 (associated autism, hypotonia, seizures, ID)
maternally inherited duplication (associated autism, hypotonia, seizures, ID)
30
Q

what is the current model for pharmacology?

A

one size fits all
some benefit, many don’t.
medication stopped in those who survive adverts events

31
Q

pharmacogenetics

A
  • study of differences in drug response due to allelic variation in genes affecting drug metabolism, efficacy, toxicity
  • variable response due to individual genes
32
Q

pharmacogenomics

A
  • genomic approach to pharmacogenetics, concerned with assessment of common genetic variants in aggregate for impact on outcome of drug therapy
  • variable response to multiple loci across the genome
33
Q

once a drug is taken, it must do what?

A

A-reach target
B-exert effect
C-do the above before being inactivated/eliminated
remember-all people do this differently!

34
Q

pharmacokinetics

A

describes absorption, distribution, metabolism, excretion of drugs
(ADME)

35
Q

pharmacodynamics

A

the relationship btw the concentration of a drug at its site of action and observed biological effects

36
Q

how effective are drugs in patients?

A

25-60%

graduation of responses

37
Q

CYP450 complex

A 
gene products active in liver and intestinal epithelium
3 families (CYP 1-3)
CYP3A4 is 40% of all common drugs
38
Q

What do most CYPs do?

A

inactivate drugs
rarely are needed for activation
detoxifying proteins/genes, work on drugs (pill form)

39
Q

CYP3A

A
  • Mechanism: genetically less imp. than other drug metabolism genes (pop distribution of activity is continuous, unimodal)
  • most impt of all drug metabolizing enzymes b/c abundant in liver and intestine
  • can be up-regulated some drugs, or down regulated independently of underlying genotype
  • cyclosporine
    inhibited: ketoconazole, grapefruit juice
    induced: rifampin
40
Q

CYP2D6

A
  • mechanism: multiple
  • phenotype of extensive/ultra rapid metabolism=genetically determined
  • addition of inhibitor converts individuals to poor metabolizers
  • tryciclic antidepressants
    inhibited: quinidine, fluoxetine, paroxetine
41
Q

CYP2C9

A
  • mechanism: 2 variant has 20% activity, 3 has 10% activity

- substrates=warfarin

42
Q

NAT

A
  • isoniazid for tuberculosis
  • mechanism: rate acetylation determined genetic polymorphisms, 3 genes, 1 and 2 responsible for phenotype variation
  • modifies risk of cancers through acetylation differences
43
Q

TMPT

A
  • 6-mercaptopurine, 6-thioguanine
  • mechanism: missense mutations destabilize
  • often presented as classic example of pharmacogenic mechanism that is fatal if ignored (childhood leukemia)
44
Q

G6PD

A
  • substrates: sulfonamide, dapsone
  • mechanism: x-linked enzyme
  • deficient individuals susceptible to hemolytic anemia after drug exposures
45
Q

VKORC1

A
  • warfarin
  • mechanism: reduces vitamin K, single nucleotide polymorphisms
  • one of the most commonly prescribed medicines for over 20 million pts in US annually

Unit 2 M2M (8 decks)

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