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PHAR211 > Molecular Diagnosis > Flashcards

Molecular Diagnosis Flashcards

1
Q

What is PCR?

A

polymerase chain reaction
-quick and accurate technique to make numerous (millions to billions) copies of a piece of DNA of interest

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2
Q

What is quantitative PCR?

A

real-time PCR
-monitoring the amplification process
-helps detect expression level of a gene

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3
Q

What are the detection methods used in qPCR?

A

non-specific fluorescent dyes for double-stranded DNA
-CYBR Green 1
fluorescent reporter probe (more $$$)
-TaqMan Probe

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4
Q

What are the two types of DNA sequencing?

A

whole genome sequencing (WGS)
-coding and non-coding sequences
-cost: $1,000-$3,000
whole genome exon sequencing (WGES)
-coding sequences only
-cost: $1,000-$2,000

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5
Q

What kind of information can you get about diseases from DNA sequencing?

A

point mutations
deletions
insertions
SNPs
structural variations
detect family disease history

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6
Q

What is RNA sequencing?

A

study effects of transcriptome on phenotypes such as disease susceptibility
-cost: $500

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7
Q

What are the applications of RNA sequencing?

A

transcript identification
splice variant analysis
differential expression
clinical diagnosis

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8
Q

Describe the general schematic process for RNA sequencing.

A

extract RNA
make cDNA & shatter into fragments
map reads (puzzle together)

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9
Q

What is the largest gene in the body?

A

DMD

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10
Q

What is a biochip?

A

an array of selected biomolecules immobilized on a surface
-DNA or protein
-dont have RNA chips (unstable)

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11
Q

What is a microarray?

A

a rapid method of sequencing and analyzing genes
-DNA chip

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12
Q

What are the applications of biochips and microarrays?

A

DNA sequencing
drug discovery and development
molecular diagnosis
biomarker identification
drug safety
pharmacogenomics

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13
Q

What are some biochip technologies?

A

PCR on a chip
-customized microarray with miniaturized PCR reactor for amplification
gene profiling array
-human genotyping, CNVs, transcriptome analysis
Arrayit H25K
AmpliChip CYP 450

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14
Q

What is the NanoChip BRCA?

A

an array for diagnosis of risk for breast cancer
-14 most common mutations in BRCA1 and BRCA2 genes

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15
Q

What is 23andme?

A

global screening array that analyzes over 600,000 SNPs
-fixed markers: ~654, 027
-custom marker: up to 50, 000
provides information on health and ancestry

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16
Q

What is the ProteinChip?

A

first complete tool for disease-focused protein analysis

17
Q

Which technology are protein chips based on?

A

SELDI (surface-enhanced laser desorption/ionization)
-surface enhanced selective capture
-high sensitivity time of flight mass spectrometry (TOFMS)

18
Q

What size peptides and proteins can protein chips detect?

A

1,000-300kd

19
Q

What is Tandem-MS commonly used for?

A

proteomics

20
Q

What is microfluidics?

A

one of the most important innovations of biochip technology
-technology to precise the chip
based on advances of microfabrication
reduction in size and increase in throughput in sample analysis

21
Q

What is the benefit of microfluidics?

A

increased reaction rate, enhanced detection sensitivity, and control of adverse effects

22
Q

What is FISH?

A

fluorescence in situ hybridization
-use fluorescent probes to detect and localize a specific DNA sequence
-probe has a degree of sequence complementarity with the target

23
Q

What is SNP genotyping?

A

high resolution genome-wide association of SNPs to risk profiles of common diseases
-SNP panels: 300,000-1,000,000

24
Q

What are the associated studies with SNP genotyping?

A

SNPs and disease susceptibility
SNPs and drug responses
SNPs and treatment outcomes

25
Q

How are CNVs detected?

A

high-throughput scanning technologies such as comparative genomic hybridization (CGH) and high-density SNP microarrays

26
Q

What is gene expression profiling?

A

measurement of the expression and activity of thousands of genes at once (genomics and transcriptomics)
-get a global picture of cellular function

27
Q

What can be identified with gene expression profiling?

A

association of gene expression profiles with disease susceptibility and development, drug metabolism and adverse effects
identify drug design targets and predict drug responses

28
Q

What are examples of molecular imaging?

A

optical imaging (fluorescence, bioluminescence)
MRI scan
near-infrared imaging
single photon emission computed tomography (SPECT)
PET scan

29
Q

What is a PET scan?

A

positron emission tomography
-positron: charge +1, spin 1/2
-use a radioactive drug as a tracer, such as fluorodeoxyglucose (glucose analog)

30
Q

What are PET scans widely used for?

A

cancer diagnosis and treatment

PHAR211 (16 decks)

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