Molecular Pathology 1

Question 1

What is molecular pathology?

Answer 1

Question 2

What is a silent mutation?

Answer 2

No change in amino acid sequence

Question 3

What is a missense mutation?

Answer 3

Results in one amino acid substituted for another

Question 4

What is a nonsense mutation?

Answer 4

A stop codon replaces an amino acid colon, leading to premature termination

Question 5

What is a frameshift mutation?

Answer 5

Causes a change in the reading frame leading to introduction of unrelated amino acids

Question 6

What are the main chromosomal abnormalities?

Answer 6

Question 7

What are the molecular pathology applications?

Answer 7

Question 8

How can molecular pathology be used to investigate?

Answer 8

Question 9

Describe traditional PCR

Answer 9

Question 10

Describe real time PCR

Answer 10

Question 11

What does real time PCR appear as?

Answer 11

Question 12

Describe automated Sanger sequence

Answer 12

Question 13

Describe next generation sequencing

Answer 13

Question 14

How do we screen BRCA2 gene for cancer probability?

Answer 14

Question 15

What are HFE genes?

Answer 15

Question 16

What are the BRCA genes?

Answer 16