Cellular Control 6.1.1 Flashcards
(177 cards)
What is a gene mutation
A change in the base sequence of DNA molecule that may result in an altered polypeptide
When do these gene mutations occur?
During S phase of DNA replication
Gene mutations are more likely to occur when:
If You are exposed to mutagenic agents which can interfere with DNA replication
Give a few examples of mutagenic agents.
-high energy radiation (UV light)
-ionising radiation (Gamma rays + X-rays )
-chemicals (carcinogens e.g. mustard gas, cigarette smoke)
What can a gene mutation lead to?
Could result in either:
-a base being deleted or substituted for a different one
This is the regional DNA sequence=
TAC CCA AGT GGC
What type of mutation is this? 1
TAC ACA AGT GGC
What type of mutation is this? 2
TAC CAA GTG GC
- Base substitution mutation
- Base deletion mutation (frameshift)
What is a base substitution mutation ?
-gene mutation
-one nucleotide is incorrectly swapped during DNA replication for another nucleotide
-the correct nucleotide is replaced with an alternative nucleotide
-effects are small
Why might base substitution be considered silent?
Meaning that the new codon still codes for the same amino acid- this is because genetic code is degenerate ( multiple codons can code for the same amino acid) so no change in the sequence and so polypeptide chain likely wont be affected
What is a base deletion mutation?
-gene mutation
-a nucleotide is skipped/absent from the replicated strand
-causes frameshift mutation
-effects can be damaging
Frameshift mutation= removal of one base changes all of the subsequent codons
-more harmful as multiple amino acids may be incorrectly coded for
What is insertion mutation?
-gene mutation
-an extra nucleotide (with a new base) is randomly incorporated into the DNA sequence during replication
Define gene
Section of DNA, coding for a polypeptide
What is a chromosomal mutation?
A change in the structure or or number of chromosomes which can alter the genetic code
What is a mutation?
- a random change in the quantity or structure of the DNA of an organism
-it can happen in the body (somatic) or reproductive cells (germ-line)
What is a point mutation/substitution?
Occurs when one base pair is replaced by another
Mutations occur:
Spontaneously and continuously
Why do mutations usually not have an effect on us?
-as most mutations do not alter the polypeptide or only alter it slightly so that its structure or function is not changed (as the genetic code is degenerate I.e. several different triplets often code for the same amino acid)
-Many mutations occur in non-coding sections of DNA and so have no effect on the amino acid sequence at all
An insertion mutation changes the _________ that would have been coded for by the ___________ ____ _______, as it creates a ___, different triplet of _____.
An insertion mutation changes the amino acid that would have been coded for by the original base triplet as it creates a new different triplet of bases
How does a mutation lead to a change in the polypeptide?
-DNA base sequence determines the sequence of amino acids that make up a protein
-mutation in a gene can lead to a change in the base sequence
-and consequently the amino acids that are coded for
- If these amino acids change then the polypeptide and so protein will change in terms of structure or function
Substitution mutations can take 3 forms:
- Silent mutation
- Missense mutation
- Nonsense mutations
What is a silent mutation?
-no change to the primary structure of the polypeptide despite a change in the nucleotide base as it does not alter the amino acid sequence
In a silent mutation why does a change in the base sequence not lead to a change in the polypeptide?
Because DNA is degenerate and certain codons may code for the same amino acid, leading to no change in the amino acid sequence and therefore no change to the primary structure of the polypeptide
What is a missense substitution mutation?
The mutation alters a single amino acid in the polypeptide chain
Give an example of a disease caused by a single substitution mutation changing a single amino acid in the sequence
Sickle cell anaemia
What is a nonsense mutation?
-mutation creates a premature stop codon