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22 Cards in this Set

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  • Back
What are the three stop codons?
UAA, UAG, UGA
What is the start codon?
AUG, which codes for methionine
Instead to methionine, what is normally found at the N terminus of prokaryotic proteins?
formylmethionine
What is a transition mutation?
when a purine is exchanged for another purine or a pyrimadine is exchanged for another pyrimidine
What is a transversion mutation?
when a purine is exchanged for a pyrimidine or vice versa
What happens in a silent mutation and what is it's effect on the protein?
new codon specifies same amino acid and has no effect on the protein
What happens in a missence mutation and what is it's effect on the protein?
New codon specifies different amino acid and can cause a decrease in function of the protein.
What happens in a nonsense mutation and what is it's effect on the protein?
New codon is a stop codon and the protein will be shorter than normal; usually nonfunctional
What happens in a frameshift mutation and what is it's effect on the protein?
deletion or addition of a base...usually results in a nonfunctional protein which is ofter shorter than normal
What happens in a large segment deletion mutation and what is it's effect on the protein?
Unequal crossover in meiosis results in a loss of function and shorter than normal or entirely missing protein
What happens in a Splice donor or acceptor mutation and what is it's effect on the protein?
Variable effects ranging from addition or deletion of a few amino acids to deletion of an entire exon.
What happens in a Triplet repeat expansion mutation and what is it's effect on the protein?
Expansions in coding regions cause protein product to be longer than normal and unstable.

Disease often shows anticipation in pedigree
What well known disease is cause by a single point missense mutation?
sickle cell
When do large segment deletions usually take place?
meiosis
What is a well known disease caused by large segment deletions?
alpha thalessemias
What are splice donor and acceptor sites?
sites at the borders of introns and exons
What well known disease is a result of a mutation in a spliceing donor or acceptor site?
Beta thalessemia
What is a common disease that is due to a tripet repeat expansion?
Huntington's Disease

Fragile X Disease
What is the bad gene on the long arm in Fragile X Disease?
FMR1 gene
(familial mental retardation"
How is an amino acid activated?
two ATP high energy bonds energize the C terminus of the amino acid, leaving an AMP attached to the COOH
What enzyme facilitates the attachment of the amino acid to tRNA?
aminoacyl-tRNA synthetase
How many ATPs are used to activate the amino acid?
2 ATPs