Lecture 1

Question 1

X-linked recessive

Answer 1

• Only males are affected – passed down by mothers

Question 4

What is a monogenic genetic disorder and what are some examples?

Answer 4

Monogenic means that there is only 1 mutation, 1 gene, affecting 1 protein
- Ex: Sickle cell, Cystic fibrosis, Muscular dystrophy, single gene disorder

Question 5

What is a polygenic genetic disorder and what are some examples?

Answer 5

Polygenic disorder is a complex genetic disorder with many mutations
- These can predispose one to a disease
- Ex: diabetes, autism, cancer

Question 6

What is a chromosome disorder and what are some examples?

Answer 6

Can be of:
1) Loss or gain of chromosomes: Trisomy 21 or XO(Turner’s syndrome) respectively
2) Loss or gain of chromosome segments: Neurodevelopmental conditions, Cro-du-chat respectively

Question 7

Describe the history and findings for Sickle cell disease

Answer 7

• 1st described in 1910, 1st medical condition linked to a molecular cause and genetic disease that has been cured with gene therapy