DNA mutations

Question 1

what are the types off point mutations and what are the differences between them ?

Answer 1

transition and transversion
transition : purine to purine or pyrimidine to pyrimidine
transversion : purine to pyrimidine or pyrimidine to purine

Question 2

what are the different kinds of single nucleotide substitutions ?

Answer 2

silent mutation
nonsense mutation
misense mutation

Question 3

what is a silent mutation ?

Answer 3

where there is a change in one off the bases but the end amino acid is still the sam
this can happen due to the wobble hypothesis

Question 4

what is a nonsense mutation ?

Answer 4

results in the formation of an early stop codon

Question 5

what is a misense mutation ?

Answer 5

a mutation which leads to the formation off a completely different amino acid

Question 6

what disease shows an example of a misense mutation ?

Answer 6

sickle cell anemia
where glutamic acid is substituted for valine

Question 7

when does a frameshift mutation happen ?

Answer 7

deletion or insertion of any number of nucleotides that is not divisible by 3

Question 8

what is the main cause of frameshift mutations ?

Answer 8

DNA slippage caused by DNA polymerase

Question 9

what disease occur as a result of DNA slippage ?

Answer 9

duchenne muscular dystrophy
tay-sachs disease
cystic fibrosis

Question 10

what is splicing ?

Answer 10

thee process of removing thee introns before translation occurs

Question 11

what is a splice site mutation ?

Answer 11

change in DNA between thee boundary of an intron and an exon