Mutations (1.4) Flashcards
Explain what is meant by a mutation (2)
Mutations are changes in the DNA; mutations of genes result in an altered protein being synthesised.
What is a missense mutation (1)
Mistake in the amino acid coded for.
What is a nonsense mutation (1)
Produces a STOP codon and RNA polymerase goes NO further.
What is a splice-site mutation (might remove) (1)
Mutation at a point where coding and non-coding regions meet in a section of DNA.
Give two examples of Mutagens (2)
X-ray; mustard gas; UV light; gamma rays.
What are the 3 single gene mutations (3)
REMEMBER SID
Substitution, Insertion, Deletion.
A genetic disorder of the nervous system results from a mutation in which a nucleotide is inserted into a gene. What type of mutation causes this? (1)
Translocation.
Describe substitution (1)
Single gene mutation in which one nucleotide is replaced by another.
Describe Insertion (1)
Single gene mutation in which an additional nucleotide is placed into the sequence.
Describe Deletion (1)
Single gene mutation involving removal of a nucleotide from a sequence.
What is a Protein (1)
A large molecule made up of chains of amino acids linked by peptide bonds.
How would a mutation in a tissue stem cell affect a person (1)
A mutation in a tissue stem cell will only effect that cell. However, if a mutation effects the proto-oncogenes ( a cell which can develop into a cancer cell) it is likely to be serious.
How would a mutation in a germline cell effect a person (1)
A mutation in a germline cell of an organism can be inherited from one generation to the next; if it is, it will be present in all of the cells of the offspring.
What is a single gene mutation? (1)
A change in a single nucleotide.
Describe what a frame-shift mutation is (1)
Gene mutation in which all amino acids coded for after the mutation are affected.
What is the difference between Nucleotide mutation (single gene mutation) and Chromosome mutations (2)
Gene mutation (Chromosome)- Is the change in the nucleotide sequence; small changes in the gene. Nucleotide mutation (Single gene mutation)- Is the change in several genes; large scale changes.
Describe the Chromosome mutation of Deletion; and the health implications (2)
Chromosome mutation in which a sequence of genes is lost from a chromosome; health implication is Cri du chat syndrome, deletion of chromosome 5.
Describe the Chromosome mutation of Inversion; and the health implications (2)
Chromosome mutation in which a set of genes rotates through 180*; health implication is haemophilia A.
Describe the Chromosome mutation of Translocation; and the health implications (2)
Chromosome mutation in which part of a chromosome becomes attached to another; health implication is Down Syndrome.
Describe the chromosome mutation of Duplication (2)
Chromosome mutation in which a section of chromosome is added from its homologous partner; can be lethal.
