Lecture 10

Question 1

What are DNA markers?

Answer 1

Regions of DNA that vary between individuals

Question 2

What are two types of DNA markers?

Answer 2

Repeated sequences and Single Nucleotide Polymorphisms

Question 3

What is meant by genetic heterogeneity?

Answer 3

Where a single phenotype or genetic disorder is cause by multiple different alleles from the same gene or mutations in several genes

Question 4

What is Pleiotropy?

Answer 4

A single gene contributes to multiple phenotypic expressions

Question 5

Connection between Cystic fibrosis and heterogeneity

Answer 5

The CFTR protein is either damaged or there aren’t of them. They move Cl- ions out of the cell. Patient are tested to determine their class of defect

Question 6

What are types of treatment for cystic fibrosis.

Answer 6

Correctors - Increase quantity of protein produced

Protentiators - Enhance CFTR function

Question 7

What is retinitis pigmentosa

Answer 7

Inherited retinal degeneration - primarily affects rod photoreceptors

Question 8

What are the different forms of inheritance for retinitis pigmentosa?

Answer 8

Autosomal dominant, autosomal recessive and X-linked recessive

Question 9

What is the most important type of retinitis pigmentosa?

Answer 9

Peripherin

Question 10

What is the importance of factor V and prothrombin

Answer 10

important clotting factors

Question 11

What can affect Factor V?

Answer 11

Factor V Leiden mutation - A single base mutation causes the alteration of the site at which clotting factor V is cleaved. The factor V is then resistant to degradation