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21 Cards in this Set

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used to detect the and localize the presence or absence of specific DNA sequences in chomosome using fluorescent probes which bind only to parts of chromosome which they show high degree of squence similarity
FISH
cycle threshold
in PCR - the number of cycles of amplification beofre the targed is detected
mircrosattelite instability (MSI)
we all have microsattelites (repeats) but with tumor there may be expansion or contraction
not only can MSI tell us if person is predisoposed but it can tell us
how well someone may respond to therapy
why is melt curve analysis helpful
every pcr product has signiture melting point and you can look at a deviation from this and tell something is mutated - can be as sensitive as detecting one single base pair mutation - may be one degree difference.
Gleevec blocks what
BCR-ABL
what might you use to detect BCR-ABL abnormal translocation
FISH or real time RT-PCR
Irinotecan is first line in therapy for collorectal cancer - how does its metabolism effect side effects seen by pat
CPT-11 - SN-28 (active) - metabolized by UGt1A1 to inactive form -

it is how long it is active that is important - if person does not have this UGT1A1 enzyme - the active metabolite stays around too long and is toxic

detect abnormal enzyme polymorphism using PCR
three steps in PCR
1. denaturation of dsDNA leads to ss DNA

2. annealing of ssDNA and primer hybridization

3. extension - polymerase/DNA synthesis

denaturation, annealing, and extension only take 15,30 sec each in 1 PCR cycle
how is traditional PCR different than RTPCR
1. Traditional PCR: sample prep, PCR, Detection, and Analysis

2. Real time: sample prep, (PCR amplificaiton, detection, and analysis all in one step)
molecular biomarkers (genetic variation, expression, variations, proteins, can be used to (name 4)
1. detect cancer
2. Determine Prognosis
3. Monitor disease progression
4. Monitor therapeutic response
Hybrid Capture (hc2) HPV DNA test uses what to differentiate between carcinogenic and low risk HPV types
RNA probes
can MSIs occur sporadically
yes
what is the hematologic response goal in CML
normal PB values and spleen size
what is the cytogenetic response therapeutic goal in CML
reduction of Ph+ cells in blood or bone marrow
what is the molecular response goal in CML
reduction or elimination of bcr-abl mRNA in marrow or PB
what might you use to detect if a gene is amplified or there is an abnormal number of chromosomes

e.g HER2 in breast cancer
FISH

uses fluorescent probes which bind only those parts of the chromosome which they show a high degree of sequence similarirty
a type of myeloproliferative disease associated with chracteristic chromosomal translocation called the Philadelphia chromosome
CML
a fusion protein produced in most cases of CML
p210
fusion produced in CML that results in chronic neutrophilic leukocytosis
p230 BCR-ABL protein
reduced expression in Crigler najiar Type 1 and Gilberts Syndrome
UGTA1 - essential enzyme needed for the the drug Irinotecan