Mendelian Inheritance

Question 1

What are the characteristics of autosomal dominant inheritance

Answer 1

Each child has 50% of inheriting mutation
No skipped generations
Equally transmitted by male and female
Male to male transmission

Question 2

What are examples of autosomal dominant disorders

Answer 2

Huntingtons disease
Achondroplasia

Question 3

What is x-linked inheritance

Answer 3

Only males affected
Can skip generations
Unaffected women and affected men can transmit condition
No male to male transmission

Question 4

What is an example of x linked inheritance

Answer 4

Duchenne muscular dystrophy

Question 5

What are examples of x linked recessive disorders

Answer 5

Duchenne muscular dystrophy
Hunter syndrome

Question 6

What are examples of autosomal recessive disorders

Answer 6

cystic fibrosis, sickle cell anemia, and Tay-Sachs disease

Question 7

What can cause Mendelian disease?

Answer 7

Multiple genes in the same molecular pathway

Question 8

What type of inheritance is Cystic fibrosis

Answer 8

Autosomal Recessive as you need 2 disease genes, 1 acts as a carrier

Question 9

What type of inheritance is Huntington’s Disease

Answer 9

Autosomal Dominant as you only need 1 diseased gene

Question 10

What is achondroplasia

Answer 10

A genetic condition affecting a protein in the body called the fibroblast growth factor receptor

Question 11

How is achondroplasia inherited

Answer 11

Autosomal dominant pattern

Question 12

What is Duchene Muscular Dystrophy characterised by

Answer 12

progressive muscle degeneration and weakness

Question 13

Outcome when the father has ‘haemophilia’ and mother is unaffected

Answer 13

Question 14

Outcome when the mother has haemophilia gene and father is unaffected

Answer 14