Mutations in DNA

Question 1

SEVERITY OF DAMAGE

Answer 1

frameshift
nonsense
missense
silent

Question 2

TYPES OF SINGLE NUCLEOTIDE (POINT) MUTATIONS

Answer 2

TRANSITION - purine to purine or pyrimidine to pyrimidine

TRANSVERSION - purine to pyrimidine or pyrimidine to purine

Question 3

Nucleotide substitution codes for same amino acid

Answer 3

SILENT MUTATION

Question 4

Nucleotide substitution results in CHANGED AMINO ACID

Answer 4

MISSENSE MUTATION

Sickle Cell Disease (substitution of GLUTAMIC ACID TO VALINE)

Question 5

Nucleotide substitution results in EARLY STOP CODON (UGA, UAA, UAG)

nonfunctional protein

Answer 5

NONSENSE

STOP THE NONSENSE

Question 6

Deletion or insertion of a number of nucleotides not divisible by 3 –> MISREADING OF ALL NUCLEOTIDES DOWNSTREAM

protein may be shorter or longer and function may be disrupted or altered

Answer 6

FRAMESHIFT MUTATION

Duchenne Muscular Dystrophy, Tay Sachs disease

Question 7

Retained intron in mRNA –> protein with impaired or altered function

Answer 7

SPLICE SITE MUTATION

dementia
epilepsy
some types of B thalassemia
Gaucher disease
Marfan syndrome