DNA damage, Mutation + Disease

Question 1

DNA damage leads to mutation

Answer 1

• If DNA is not repaired, will lead to mutation
• Somatic cells can obtain 100s of mutations

Question 2

Mutation + Cancer - Driver Mutation

Answer 2

Are found within the 500 ‘cancer genes’ within the human genome
- Varies between cancers (5 to 10s)

Question 3

Mutation + Cancer - Passenger Mutation

Answer 3

• Do not confer growth advantage + were acquired before or after the cell became a cancer cell

Question 4

Germline mutations

Answer 4

Individual inherits ~60-90 de novo mutations in germline of their parents
- Paternal to maternal ratio = ~3:1
- Very low probability for single gene disorders
- Relatively common for disease that are linked to many genes

Question 5

De novo mutations + disease

Answer 5

• Rett Syndrome due to de novo germline mutations within a mutational hotspots

Psychiatric disorders
- Mutations in over 100 genes are linked to psychiatric disorders
- Linked to several disorders e.g. SZ, ASD, ADHD