What Type Of Mutation Does The Gene Have?

Question 1

What mutation happens in the beta subunit?

Answer 1

Nonsense mutations

Question 2

What type of mutation happens to the HTT gene to cause Huntington’s?

Answer 2

Expansion, autosomal dominant

Question 3

What type of mutation happens to Factor V to cause Thrombophilia?

Answer 3

Factor V experiences Factor 5 Leiden which is a POINT MUTATION, changing of Arganine 506 to Glutamine

Question 4

What type of mutation does Factor IXa undergo?

Answer 4

Factor IXa undergoes POINT MUTATION, Haemophilia B is an inherited disorder that is X-Linked

Question 5

What type of mutation happens to vWF?

Answer 5

Von Willebrand Factor experiences an inherited mutation on Chromosome 12

Question 6

What type of mutation happens to Factor VIII?

Answer 6

Factor VIII experiences DELETION within the X chromosome

Question 7

The ATM gene is passed on how?

Answer 7

Autosomal recessive

Question 8

What type of mutation does the β-Globin Gene experience?

Answer 8

The Beta-Globin Gene experiences Single nucleotide substitution
Adenine to thymine AND glutamic acid to valine.
Sickle Cell anaemia is an inherited autosomal recessive disorder

Question 9

What mutation do the BRCA 1 and 2 genes experiences?

Answer 9

BRCA1 and 2 undergo identified mutations such as missense, large deletion, insertion, nonsense and splice-site variants; depending on which cancer it causes