Molecular Diagnosis

Question 1

What is Polymerase chain reaction?

Answer 1

A quick and accurate technique to make numerous (millions to billions) copies of a piece of DNA of interest

The numbers of DNA molecules doubles in every cycle (after 30 cycles = 1 billion copies)

Question 2

What is quantitative PCR (Q-PCR)?

Answer 2

It includes the use of dyes and probes to help identify expression level during the PCR process

Question 3

How much does it cost to sequence the whole genome?

Answer 3

$1000 to $3000 (this includes company proft, actual costs are probably closer to $500)

Question 4

How can whole genome sequencing reveal risks for disease?

Answer 4

Once the whole genome has been sequenced; point mutations, deletions, insertions, SNPs, structural variations, etc can all be determined. Any mutations that are associated with disease can be flagged and direct patient towards screening

Question 5

What is the purpose of RNA-seq?

Answer 5

This process can help HCPs study the effects of transcriptome on phenotypes such as disease susceptibility

Question 6

What are biochips?

Answer 6

An array of selected biomolecules immobilized (DNA or Protein chips, no RNA biochip is available) on a surface

Question 7

What are microarrays?

Answer 7

They are a rapid way of sequencing and analyzing genes

Microarrays are always a DNA chip

Question 8

Do biochip assays contain the same amount of information as a whole genome sequencing?

Answer 8

No, biochips only contain a selected amount (still over 600,000 different sequences) and they are looking for biomarkers only vs. whole genome sequencing studies the entire DNA sequence

Question 9

What are protein chips?

Answer 9

They are test chips that have immobilized proteins on a surface.

The sample is exposed to the protein chip, and the target proteins bind to the sites on the protein chip (SELDI technology)

Question 10

What is microfluidics?

Answer 10

This technology has allowed the creation of DNA and protein chips with more complex and diverse functions in a smaller size.

Question 11

What are the types of microfluidics chips?

Answer 11

• FISH
• Lab-on-a-chip
• LabCHip
• LabCD (TECAN): can tell us about ADME parameter

Question 12

How does the Fluorescence in situ hybridization (FISH) process work?

Answer 12

• Use fluorescent probes to detect and localize a specific DNA sequence
• Fluorescent probe binds to complementary target region on a chromosome during DNA replication. After replication occurs, the region in the chromosome that contains the sequence of interest will fluoresce

Question 13

What is SNP genotyping?

Answer 13

It is a high-resolution genome-wide association of SNPs to the risk profile of common diseases.

Question 14

What is gene expression profiling?

Answer 14

It is found with microarray and RNA-sequencing

It is a measurement of the expression and activity of genes at once (genomics and transcriptomic)

This information can help identify association of gene expression profiles with disease susceptibility and development, drug metabolism and adverse effects, etc

Question 15

What are some types of medical imaging?

Answer 15

• Optical imaging (fluorescence, bioluminescence)
• MRI
• Near-infrared imaging
• Single photon emission computed tomography (SPECT)
• PET scan

Question 16

What are some characteristics of PET scans?

Answer 16

Positron Emission Tomography

Use a radiolabelled glucose analogue that will be absorbed by the tumours and brain quickly. Once the patient is put under a PET scan machine, it will show where these high-glucose demand areas are in the body