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PHAR 211 - Personalized Medicine > Intro Stuff (Yang) > Flashcards

Intro Stuff (Yang) Flashcards

1
Q

Rank following “omics” by price to conduct (cheapest to priciest):

Pharmacogenomics
Transcriptomics
Metabolomics
Proteomics

A

1) Pharmacogenomics ($)
2) Transcriptomics ($$)
3) Metabolomics ($$$)
4) Proteomics ($$$)

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2
Q

Some challenges with conducting Personalized Medicine?

A

-Patient Engagement
-Cost
-Patient Privacy
-Data Ownership / Management

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3
Q

Unique feature of Neuronal Cells as it pertains to the cell cycle?

A

Cannot re-enter (permanently differentiated).

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4
Q

Where is Restriction Point in Meiosis?

A

G1 (prior to S Phase where DNA replication occurs).

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5
Q

What percentage of the total human chromosome count encodes for genes?

A

10%

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6
Q

An average DNA molecule consists of how many million base pairs?

A

50 - 250 million

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7
Q

Which Histone proteins comprise the Octameric core of a condensed chromosome?

A

H2A, H2B, H3, H4

-All of them x2 (for total of 8).

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8
Q

Human genes range in size from ___ - ___ kilobases.

A

1.5 - 2000kb

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9
Q

In RNA triplet codons, which base is flexible to change?

A

3rd… 1st two not!

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10
Q

An average human cell expresses around how many genes?

A

15 000

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11
Q

Does genetic mutation mean I’ll get cancer?

A

NOOOOO (increases risk but no guarantee of getting it).

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12
Q

RNA Polymerase binding site for translational start is called what?

A

Promoter

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13
Q

What represses gene transcription as it pertains to the Promoter?

A

Methylation

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14
Q

Size of the human genome, as predicted by the Human Genome Project?

A

19 000 - 22 000 genes

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15
Q

Types of genetic variations within the human genome?

A

1) SNPs
2) CNVs
3) Insertion / Deletion
4) Lg Scale Variations
5) Structural Variations

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16
Q

What is the most common form of genetic variation?

A

SNPs

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17
Q

What percentage of known polymorphisms are attributed to SNPs?

A

~80%

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18
Q

What would an SNP in Non-Coding region of a gene do?

A

NOTHING FUCKKKK

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19
Q

Types of CNVs?

A

1) Deletion… Gene entirely deleted.

2) Duplication… Extra gene copy.

3) Segmental Duplication… Doublets of two different genes.

4) Inversion… Two genes swap places.

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20
Q

Explain the significance of SULT1A1 copy number variants.

A

Certain races = More gene copies… Those with the greatest number of copies (ie. African Americans) of this gene demonstrated faster rates of drug metabolism.

21
Q

Types of INDELs?

A

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

22
Q

Example of INDEL in Cystic Fibrosis?

A

F508 Deletion (3 BP Deletion)

23
Q

Example of INDEL in Huntington’s?

A

Triplet Repeat Expansion (> 35 CAG repeats in HTT Gene)

24
Q

Example of INDEL in Breast Cancer?

A

6.2kb Deletion (BRCA2 gene)

25
Q

Why are Structural Variations in the short arm of Chromosome 1 important to take note of?

A

Is a “Hot Spot” (ie. Genome region with lots of potential for variation)… Deletion = Loss of tumor suppressor genes, so cancer risk increases!

26
Q

Difference between Para & Pericentric Inversion?

A

Paracentric: Inverted break on one singular arm of a chromosome.

Pericentric: Inversion around the Centromere.

27
Q

Chromosome 9 / 22 translocations create what is known as the “__________” chromosome.

A

Philadelphia

28
Q

Why is BCR-ABL gene fusion significant?

A

Translocation can lead to Acute Lymphocytic Leukemia (ALL) & Chronic Myeloid Leukemia (CML).

29
Q

Why is it cheaper to conduct Genomic / Transcriptomic / Proteomic analysis in comparison to Metabolomics?

A

DNA / mRNA / Proteins form linear primary structures, which make sequencing easier… Metabolites are NOT linear structures (often branched & very complex).

30
Q

I’m analyzing how genes in the body function as a whole system. What is this scientific study called?

A

Genomics

31
Q

I’m looking at the function of a particular gene. What scientific study is this?

A

Genetics

32
Q

How do Exons & Introns differ?

A

E: Gene portion encoding AAs

I: Gene portion that DOES NOT encode AAs

33
Q

Technologies associated with Transcriptomics?

A

RNA-Seq, Microarrays

34
Q

Technologies associated with Proteomics?

A

2D SDS-PAGE, LC, MS

35
Q

Technologies associated with Lipidomics?

A

LC, HPLC, NMR, MALDI-MS

36
Q

What is a Biomarker?

A

Biomolecule found in bodily fluids or tissues that equates to either normal or abnormal processes.

37
Q

Why do we use Biomarkers?

A

To see how well body responds to disease treatments!

38
Q

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?

A

2^8
= 256

39
Q

Abbott qPRC targets what HIV region?

A

HIV Integrase

40
Q

Cepheid qPCR targets what surface receptor markers in the characterization of cancer subtypes?

A

ESR1, PGR, ERBB2

41
Q

____ is a cancer proliferation marker detected by Cepheid qPCR.

A

MKI67

42
Q

What types of molecules are used in Biochips?

A

DNA / Protein only… NOT RNA (as it is easily degraded & not very stable).

43
Q

Microarrays consist of what molecules?

A

DNA

44
Q

An example of an infamous company that utilizes Gene Profiling Microarrays is what?

A

23 & Me

45
Q

Which Biochip technology is most applicable to the pharmacy profession?

A

AmpliChip CYP450 (Roche)

46
Q

What is the application of SNP Genotyping?

A

-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

47
Q

Epitope 18-_-___ is used as a radiotracer in the detection of cancerous tumors in PET Scans.

A

F - FDG (Fluorodeoxyglucose)

48
Q
A

PHAR 211 - Personalized Medicine (12 decks)

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