What is mutation? - answer>>changes in the genetic material of a cell or virus
What are the 2 main ways to obtain genetic differences? - answer>>sex (recombination) and
spontaneous mutation - drive natural selection
What are the 2 types of missense mutation? - answer>>conservative or non-conservative
What is a gene? - answer>>A genomic sequence (DNA or RNA) directly encoding functional
product molecules, either RNA or protein.
In a human germ line how many new mutations are there per 10^8 base pairs (in each
generation)? - answer>>3
How many de novo mutations are found in each human child? - answer>>200
Where do the 200 de novo mutations in each child come from? - answer>>occur in parents
germ line
What are 4 origins of mutations? - answer>>1. replication erros/ repair errors
2. DNA damage caused by the metabolism (reactive oxygen species)
3. mutagens in food
4. ionising radiation
, Why do replication errors resulting in the change of a single base not often result in mutations?
- answer>>the base pair becomes unstable
What works to lower the mutation rate? - answer>>DNA repair
Extra info: DNA damage - DNA repair = net mutation rate (200 per generation)
How can you increase the mutation rate? (2) - answer>>1. increase the rate of DNA damage
2. reducing the repair efficiency
How can you increase the rate of DNA damage? - answer>>sunbathing or radiation
What happens to skin cells in bright sunlight? - answer>>each skin cell suffers 50-100 T-T
dimers every second
What happens to T-T dimers produced by bright sunlight in patients with Xeroderma
Pigmentosum? - answer>>They become mutations as they cannot be repaired. The patients
become highly sensitive to sun-induced skin cancers.
What do germ-line cells do? - answer>>produce gametes
What do germ line cells differentiate in to? - answer>>somatic cells
Why are somatic cells a genetic dead end? - answer>>mutations cannot be passed on
What is the mutation rate of germ line cells? - answer>>200 per new generation - low rate
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