Which Genes Mutate To Cause A Monogenic Disorders?

Question 1

What does a loss in beta chain cause?

Answer 1

A loss in beta chain causes beta thalassaemia

Question 2

What disease does a mutation in the CTFR gene cause?

Answer 2

A mutation in the CTFR gene causes Cystic Fibrosis

Question 3

What does a mutation in the BLM gene cause?

Answer 3

A mutation of the BLM gene causes Bloom’s syndrome

Question 4

A mutation in the HTT gene causes what disease?

Answer 4

A mutation in the HTT gene causes Huntington’s disease

Question 5

What does a mutation in Factor V cause?

Answer 5

A mutation in Factor V results in Factor V Leiden which causes Thrombophilia

Question 6

A mutation in Factor IXa causes what?

Answer 6

A mutation in Factor IXa causes Haemophilia B

Question 7

A mutation in alpha 1 hydroxylase causes what?

Answer 7

A mutation in alpha 1 hydroxylase causes Type 1 rickets

Question 8

A mutation in Von Willebrand factor (vWF) causes what?

Answer 8

A mutation in vWF causes Von Willebrand disease

Question 9

A mutation on Factor VIII causes what disease?

Answer 9

A mutation in Factor VIII causes Haemophilia A

Question 10

A mutation in the MMR gene causes what disease?

Answer 10

A mutation in the MMR gene causes Lynch types which leads to Colorectal cancer (CRC)

Question 11

What does a mutation in the ATM gene cause?

Answer 11

A mutation in the ATM gene causes Ataxia Telangiectasia

Question 12

What does a mutation in the Beta Globin gene cause?

Answer 12

A mutation in the Beta Globin gene causes Sickle Cell anaemia

Question 13

What disease does a mutation in the BRCA 1 and 2 Genes cause?

Answer 13

Mutations in BRCA 1 and 2 cause ovarian, prostate and breast cancer