Intro Stuff (Yang) Flashcards
Rank following “omics” by price to conduct (cheapest to priciest):
Pharmacogenomics
Transcriptomics
Metabolomics
Proteomics
1) Pharmacogenomics ($)
2) Transcriptomics ($$)
3) Metabolomics ($$$)
4) Proteomics ($$$)
Some challenges with conducting Personalized Medicine?
-Patient Engagement
-Cost
-Patient Privacy
-Data Ownership / Management
Unique feature of Neuronal Cells as it pertains to the cell cycle?
Cannot re-enter (permanently differentiated).
Where is Restriction Point in Meiosis?
G1 (prior to S Phase where DNA replication occurs).
What percentage of the total human chromosome count encodes for genes?
10%
An average DNA molecule consists of how many million base pairs?
50 - 250 million
Which Histone proteins comprise the Octameric core of a condensed chromosome?
H2A, H2B, H3, H4
-All of them x2 (for total of 8).
Human genes range in size from ___ - ___ kilobases.
1.5 - 2000kb
In RNA triplet codons, which base is flexible to change?
3rd… 1st two not!
An average human cell expresses around how many genes?
15 000
Does genetic mutation mean I’ll get cancer?
NOOOOO (increases risk but no guarantee of getting it).
RNA Polymerase binding site for translational start is called what?
Promoter
What represses gene transcription as it pertains to the Promoter?
Methylation
Size of the human genome, as predicted by the Human Genome Project?
19 000 - 22 000 genes
Types of genetic variations within the human genome?
1) SNPs
2) CNVs
3) Insertion / Deletion
4) Lg Scale Variations
5) Structural Variations
What is the most common form of genetic variation?
SNPs
What percentage of known polymorphisms are attributed to SNPs?
~80%
What would an SNP in Non-Coding region of a gene do?
NOTHING FUCKKKK
Types of CNVs?
1) Deletion… Gene entirely deleted.
2) Duplication… Extra gene copy.
3) Segmental Duplication… Doublets of two different genes.
4) Inversion… Two genes swap places.
Explain the significance of SULT1A1 copy number variants.
Certain races = More gene copies… Those with the greatest number of copies (ie. African Americans) of this gene demonstrated faster rates of drug metabolism.
Types of INDELs?
1) Single BP INDELs (cause frameshifts)
2) Repeat Monomeric BP Expansion (weird proteins & folding patterns)
3) Multi BP Expansions
4) Transposon Insertions (ie. Mobile Elements)
5) Random DNA Sequence INDELs
Example of INDEL in Cystic Fibrosis?
F508 Deletion (3 BP Deletion)
Example of INDEL in Huntington’s?
Triplet Repeat Expansion (> 35 CAG repeats in HTT Gene)
Example of INDEL in Breast Cancer?
6.2kb Deletion (BRCA2 gene)
Why are Structural Variations in the short arm of Chromosome 1 important to take note of?
Is a “Hot Spot” (ie. Genome region with lots of potential for variation)… Deletion = Loss of tumor suppressor genes, so cancer risk increases!
Difference between Para & Pericentric Inversion?
Paracentric: Inverted break on one singular arm of a chromosome.
Pericentric: Inversion around the Centromere.
Chromosome 9 / 22 translocations create what is known as the “__________” chromosome.
Philadelphia
Why is BCR-ABL gene fusion significant?
Translocation can lead to Acute Lymphocytic Leukemia (ALL) & Chronic Myeloid Leukemia (CML).
Why is it cheaper to conduct Genomic / Transcriptomic / Proteomic analysis in comparison to Metabolomics?
DNA / mRNA / Proteins form linear primary structures, which make sequencing easier… Metabolites are NOT linear structures (often branched & very complex).
I’m analyzing how genes in the body function as a whole system. What is this scientific study called?
Genomics
I’m looking at the function of a particular gene. What scientific study is this?
Genetics
How do Exons & Introns differ?
E: Gene portion encoding AAs
I: Gene portion that DOES NOT encode AAs
Technologies associated with Transcriptomics?
RNA-Seq, Microarrays
Technologies associated with Proteomics?
2D SDS-PAGE, LC, MS
Technologies associated with Lipidomics?
LC, HPLC, NMR, MALDI-MS
What is a Biomarker?
Biomolecule found in bodily fluids or tissues that equates to either normal or abnormal processes.
Why do we use Biomarkers?
To see how well body responds to disease treatments!
I want to amplify a particular DNA region, so I use PCR techniques. After 8 cycles, how many copies will I have of that DNA region?
2^8
= 256
Abbott qPRC targets what HIV region?
HIV Integrase
Cepheid qPCR targets what surface receptor markers in the characterization of cancer subtypes?
ESR1, PGR, ERBB2
____ is a cancer proliferation marker detected by Cepheid qPCR.
MKI67
What types of molecules are used in Biochips?
DNA / Protein only… NOT RNA (as it is easily degraded & not very stable).
Microarrays consist of what molecules?
DNA
An example of an infamous company that utilizes Gene Profiling Microarrays is what?
23 & Me
Which Biochip technology is most applicable to the pharmacy profession?
AmpliChip CYP450 (Roche)
What is the application of SNP Genotyping?
-Disease Susceptibility
-Drug Response
-Treatment Outcomes
-Defining Disease
-In correlating DR to Gen. Background
-Predict DR / AEs
-ID common SNPs between pt. sets that aren’t responding to drugs
Epitope 18-_-___ is used as a radiotracer in the detection of cancerous tumors in PET Scans.
F - FDG (Fluorodeoxyglucose)
