Set 1 Flashcards
Why do humans have lower mutation rates than other organisms despite a large genome?
Proof reading activity of DNA polymerase
Human genome size
3.3 billion base pairs in a diploid cell
Human mutation rate
1.5*10^-8 (per base pair per haploid genome)
What are coding regions of mRNA called
Exons
What are non coding region of mRNA called
Introns
Give an example of reverse transcription
HIV
T/F only exons get translated
True. Introns do not get translated
Amino acids are _____ letter code
Three
Four major classes of genetic mutations
- Point mutation
- Frameshift mutation
- Chromosomal rearrangements
- Gene duplications
5 types of structural mutations
- Deletion/duplication
- Inversion
- Fission/fusion
SPARCL1 is an example of _____
Gene duplication event
Which of the 5 major types of structural mutation is important for evolution?
Duplication
William’s syndrome is an example of _____
Chromosomal deletion
_____ can cause new species
Polyploidy
Polyploidy defintion
Heritable condition of possessing two complete sets of chromosomes
Down syndrome is an example of _____
Polyploidy
In which two of the five chromosomal rearrangements do transposable elements play a role?
Deletion, duplication
_____ cause misaligned chromosomes
Transposable elements
Most common type of structural mutation
Inversion
Inside region is bad, outside region is ok
Paracentric inversion is bad
What was the human genome project, when did it begin and end
Sequencing of human genome
Begin: 1990
End: 2003