Module 6: Genetic Change Flashcards
(85 cards)
What are physical muatgens?
Heat and ionising radiation
What is ionising radiation?
Radiation that has enough energy to break chemical bonds in DNA
What does ionising radiation cause in DNA?
Deletion or partial chromosome loss
What is base excision repair?
When damaged or incorrect base is removed and replaced
What is mismatch repair?
When DNA polymerase carries out ‘spell check’ for accuracy of replication
What is point muation?
A single nucleotide variation
What does point mutation usually result in?
Base substitution but some result in frameshift
What is an example of point mutation?
Sickle cell gene point mutation which causes sickle cell aneamia
What is frameshift mutation?
Point mutation that involves the insertion or deletion of a nucleotide
What does frameshift mutation result in?
A whole sequence of incorrect amino acids
What is a nonsense mutation?
Change in amino acids to a stop codon
What is a missense mutation?
Change in an amino acid
What is a silent mutation?
Change in DNA sequence that does not cause change in amino acids
What is chromosomal mutation?
Large scale changes where the overall structure or number of chromosomes is changed
What are the four types of chromosomal mutation?
Deletion
Duplication
Inversion
Translocation
What is chromosomal deletion?
When a section of DNA is removed and not replaced
What is chromosomal duplication?
Portion of DNA is duplicated and inserted
What is chromosomal inversion?
DNA is removed and turned 180 degrees and reinserted
What is chromosomal translocation?
DNA is moved from one chromosome to another
What is aneuploidy?
When one or more extra copies of an entire chromosome are made or are missing
What are somatic mutations?
Mutations that occur in somatic cells which are non-reproductive cells
How does a somatic mutation occur?
Due to replication error
What cells does somatic mutations effect?
Daughter cells of somatic cells
What are germline mutations?
Mutations that occur in the germline cells which are gametes