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
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller dennohz2000. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $14.99. You're not tied to anything after your purchase.