L18: Causes and Effects of Variation in the Genome

Question 1

What is a SNP?

Answer 1

most common type of variant

single nucleotide polymorphism

Question 2

-

Answer 2

cell division

from intrinsic and extrinsic attacks on DNA

Question 3

Which mutations are heritable and which are not?

Answer 3

Yes - germline mutations

No - somatic mutations

Question 4

or
-

Answer 4

• using a sister DNA molecule (accurate)

- by end-join broken ends (error prone)

Question 5

What is a missense mutation?

Answer 5

one amino acid changed

can be harmful or can have no effect if amino acid not involved in bonding or if the amino acid has a similar strucuture

Question 6

What is is nonsense mutation?

Answer 6

chnange from an amino acid codon to a stop codon

truncated protein –> pathogenic

Question 7

What is a splice site mutation?

Answer 7

change that results is altered RNA sequence as splicing is affected