Genetic Variation in Disease

Question 1

What is silent variation/synonymous

Answer 1

No change to aa sequence

No change to functino

Question 2

Non-synonymous mutation

Answer 2

Change aa sequence
Can change structure of protein
can change function of protein
can cause disease

Question 3

What is a nonsense mutation?

Answer 3

Formation of stop codon
Results in premature termination of translation of peptide chain
No protein made
Non-sense mediated decay- form of RNA surveillance- protect body from truncated protein formation

Question 4

What is a missense mutation?

Answer 4

Coding for a different aa
New aa chemically dissimilar= non-conservative, structure protein v different
New aa chemically similar= conservative substitutation= no or little difference in protein functinal effect

Question 5

What is frameshift mutation

Answer 5

Insertion or deletion of nucleotides
If not multiple of 3, disrupts the reading frame
AA after all different

Question 6

What is a mutation?

Answer 6

Alteration in nucleotide sequence of the genome of an organism, virus, extrachromosomal DNA

Question 7

What is a variant?

Answer 7

alteration that can be benign, pathogenic or of unknown significance