12. Genetic Variability

Question 1

What is aneuploidy?

Answer 1

Gain or loss of a chromosome

Question 2

What condition causes Down Syndrome?

Answer 2

Trisomy of chromosome 21

Question 3

What is translocation?

Answer 3

Abnormal lining up of different chromosomes which mix together

Question 4

What are copy number variants?

Answer 4

Deletions or duplications of DNA >1000 base pairs

Question 5

What are microsatellites?

Answer 5

Short repeats in a DNA sequence

Question 6

What is a single nucleotide polymorphism?

Answer 6

Single base pair change

Question 7

What mutations might be pathogenic?

Answer 7

Copy number variant
Translocation
Change in amino acid sequence
Premature stop codon

Question 8

What is a silent/synonymous gene mutation?

Answer 8

Codes for the same amino acid

Question 9

What is a missense/nonsynonymous gene mutation?

Answer 9

Codes for a difference amino acid

Question 10

What is a nonsense/stop mutation?

Answer 10

Stop codon is introduced prematurely

Question 11

What causes a frame shift?

Answer 11

Insertions and deletions

Question 12

What is meant by ‘genomic instability’?

Answer 12

Genome of that individual has started to accumulate mutations faster than other tissues in the body

Question 13

What is a driver mutation?

Answer 13

Hits a cancer gene that allows increased cell division