Gene Expression - Part Deux

Question 1

What can Errors in Gene Expression cause?

Answer 1

• Uncommon disorders such as DMD, Cystic Fibrosis

- Influence predisposition of common cancers

Question 2

In Duchene Muscular Dystrophy, where is the mutation?

Answer 2

In the DMD gene

Question 3

In Spinal Muscular Atrophy where is the mutation?

Answer 3

SMN1 gene

Question 4

In Cystic Fibrosis where is the mutation?

Answer 4

CFTR gene

Question 5

In Pulmonary Arterial Hypertension where is the mutation?

Answer 5

BMPR2 gene

Question 6

In Breast Cancer where is the mutation?

Answer 6

BRCA 1 and BRCA2 genes

Question 7

What are some Examples of Transcription error diseases?

Answer 7

• Overexpression of transcription factor (tf) MYC found in most cancers
• If one copy mutated can lead to = Haploinsufficiency one copy not enough
  Dominant mutation gene generates a protein that exerts dominance e.g genetic deafness

Question 8

How can Splicing cause disease?

Answer 8

Occurs with errors of alternative splicing e.g Cystic Fibrosis - exon 7 of smn1 gene

Question 9

How can mRNA translation create disease?

Answer 9

• Mutations affect translational efficency
• Mutations in translation proteins e.g Translation initiation factors = elf2 gene > VWM
  Release factors = eRF3 gene > gastric cancer
  Ribosome itself

Question 10

What techniques can be used to detect diseases in DNA, RNA and Proteins?

Answer 10

• Gel elctrophoresis of D/RNA - where DNA is negatively charged so will move from anode (-) to cathode(+)
• Gel image loaded with DNAs
• Western Blot for proteins

Question 11

What are the Steps involved in western blotting?

Answer 11

Sample prep, Gel electro, Blotting, blocking, antibody probing, detection

Question 12

Can you make RNA in a tube?

Answer 12

Yes

Question 13

How to detect gene expression in Polymerase Chain Reaction (PCR)?

Answer 13

Invented by Kary Mullis, Key technique, Amplifies specific region of DNA, Profiles genes