Mutations 😄

Question 0

Point mutations

Answer 0

Transition

Transversion

Question 1

Any permanent heritable change in the DNA base sequence of an organism

Has the potential to change the base sequence of mRNA and the amino acid sequence of proteins

Answer 1

Mutations

Question 2

Purine-pyrimidine to purine-pyrimidine

Answer 2

Transition

Question 3

Purine-pyramidine to pyrimidine-purine

Answer 3

Transversion

Question 4

Types of Mutations

Answer 4

Silent
Missense
Nonsense
Frame shift
Large segment deletion
Splice donor acceptor
Triple repeat expansion

Question 5

New codons specifies same amino acid, often base change in 3rd position of codon

No effect on protein

Answer 5

Silent

Question 6

New codon specifies a different amino acid (conservative if new AA is similar in chemical structure)

Possible decrease in protein function, variable effects

Answer 6

Missense

Question 7

New codon is a stop codon

Shorter than normal protein, usually nonfunctional

Answer 7

Nonsense

Question 8

Deletion or addition of a base

Protein usually nonfunctional, often shorter than normal

Answer 8

Frame shift

Question 9

Unequal crossover in meiosis

Loss of function, protein shorter than normal or entirely missing

Answer 9

Large segment deletion

Question 10

A splice site is lost through mutation

Variable effects ranging from addition or deletion of a few amino acids to deletion of an entire exon

Seen in Tay-Sachs disease, Gaucher disease, and B-thalassemia

Answer 10

Splice donor or acceptor

Question 11

Expansions in coding regions cause protein product to be longer than normal and unstable

Disease often shows anticipating in pedigree

Seen in Huntington disease, Fragile X syndrome, and myotonic dystrophy

Answer 11

Triple repeat expansion