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22 Cards in this Set
- Front
- Back
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What are the three stop codons?
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UAA, UAG, UGA
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What is the start codon?
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AUG, which codes for methionine
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Instead to methionine, what is normally found at the N terminus of prokaryotic proteins?
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formylmethionine
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What is a transition mutation?
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when a purine is exchanged for another purine or a pyrimadine is exchanged for another pyrimidine
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What is a transversion mutation?
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when a purine is exchanged for a pyrimidine or vice versa
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What happens in a silent mutation and what is it's effect on the protein?
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new codon specifies same amino acid and has no effect on the protein
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What happens in a missence mutation and what is it's effect on the protein?
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New codon specifies different amino acid and can cause a decrease in function of the protein.
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What happens in a nonsense mutation and what is it's effect on the protein?
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New codon is a stop codon and the protein will be shorter than normal; usually nonfunctional
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What happens in a frameshift mutation and what is it's effect on the protein?
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deletion or addition of a base...usually results in a nonfunctional protein which is ofter shorter than normal
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What happens in a large segment deletion mutation and what is it's effect on the protein?
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Unequal crossover in meiosis results in a loss of function and shorter than normal or entirely missing protein
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What happens in a Splice donor or acceptor mutation and what is it's effect on the protein?
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Variable effects ranging from addition or deletion of a few amino acids to deletion of an entire exon.
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What happens in a Triplet repeat expansion mutation and what is it's effect on the protein?
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Expansions in coding regions cause protein product to be longer than normal and unstable.
Disease often shows anticipation in pedigree |
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What well known disease is cause by a single point missense mutation?
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sickle cell
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When do large segment deletions usually take place?
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meiosis
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What is a well known disease caused by large segment deletions?
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alpha thalessemias
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What are splice donor and acceptor sites?
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sites at the borders of introns and exons
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What well known disease is a result of a mutation in a spliceing donor or acceptor site?
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Beta thalessemia
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What is a common disease that is due to a tripet repeat expansion?
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Huntington's Disease
Fragile X Disease |
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What is the bad gene on the long arm in Fragile X Disease?
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FMR1 gene
(familial mental retardation" |
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How is an amino acid activated?
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two ATP high energy bonds energize the C terminus of the amino acid, leaving an AMP attached to the COOH
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What enzyme facilitates the attachment of the amino acid to tRNA?
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aminoacyl-tRNA synthetase
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How many ATPs are used to activate the amino acid?
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2 ATPs
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