LQB388

Question 1

Relevance of human genomics in society?

Answer 1

Genetic testing
• pharmacogenetics
• nutrigenomics
• behavioural management
• genetic counseling
Genetic testing for investigative analyses
• forensic, security and indentity analysis
• anthropology

Question 2

RFLP means?

Answer 2

Restriction Fraction Length Polymorphism

Question 3

Point mutation

Answer 3

Changing one nucleotide
A - T

(Sickle cell disease)

Question 4

Deletion

Answer 4

Large amount of DNA lost (deletion)
Resulting in lung cancer

Question 5

Repeat alterations

Answer 5

Repeating genes can result in diseases such as Huntington disease

Question 6

Chromosomes

Answer 6

• DNA is packed into chromosomes
• Each chromosome contains a single DNA double-helix
• DNA is linear and continuous: from one end to the other
• Eukaryotic DNA is wrapped in Histones (consist of Histone proteins)

Question 7

List the structures in DNA (Bacteria)

Answer 7

Promoter, 5’ UTR, Coding sequence (CDS), 3’UTR

Question 8

Name the steps from DNA to mRNA to protein (eukaryotes)

Answer 8

Step 1: addition of 7mg to 5’ end
Step 2: removal of introns
Step 3: Poly-A+ tail added

Question 9

What happens when proteins are secreted from cells?

Answer 9

Proteins such as insulin and hormones function at distant sites in body
Signal peptide guides pre-protein to endoplasmic reticulum (ER) and is cleaved off during processing

Question 10

Relevance of human genomics in society are?

Answer 10

•Genetic testing
-Pharmacogenomics
-Nutrigenomics
-Behavioral management
-Genetic counseling

•Genetic testing for investigative analyses
-Forensic, security and identity analysis
-Anthropology

Question 11

What happens when there’s a frame shift mutation

Answer 11

• Base deletion or insertion disrupts reading frame
• Insertion & deletion events called indels
• Except where multiples of three bases involved
• Often lead to a TER codon downstream

Question 12

What is the process of PCR ?

Answer 12

1. Denaturing
2. Annealing
3. Extension

Question 13

What are the Phases of Conventional PCR ?

Answer 13

-Exponential
-Linear
-Plateau

Question 14

What is RFLP? And what does it do?

Answer 14

Restriction Fragment Length Polymorphism

• Restriction enzymes (RE)
  Target specific DNA sequence (RE site)
  Cleave DNA at target RE site
• Simplest of analyses of PCR amplicon
  Compare 2 alleles based on presence/absence of RE Site

Question 15

What steps are involved in RFLP?

Answer 15

1. Extract DNA
2. PCR amplify target
3. RE digest amplicon
4. Gel electrophoresis
5. Visualize outcomes

Question 16

What are some limitations of PCR ?

Answer 16

• End-point detection analysis only
• Laborious post PCR processing
• Not appropriate for monitoring disease therapies

Question 17

What other types of PCR are there?

Answer 17

qPCR
- real- time detection
- relative quantification
- quantitative assay with standard curves

dPCR
- end-point detection
- absolute quantification
- quantitative assay

Question 18

In terms of the human gene, what types of elements are there?

Answer 18

Tandem repeats (TRs)
Interspersed repetitive elements
- class 1
- class 2