The Genetic Code and DNA Mutations Flashcards

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1
Q

What are the components of the Translation Machinery?

A

Amino Acids
mRNA
tRNA
Ribosomes
Energy Source
Enzyme
Noncatalytic Proteins for initiation, elongation and termination

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2
Q

Start Codon (Nucleotide Sequence ____) codes for _____

A

__AUG__
__methionine__

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3
Q

How many of the 64 codons code for the 20 standard amino-acids?

A

61

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4
Q

What are the termination/stop/nonsense codons?

A

UAA
UAG
UGA

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5
Q

Which tRNA recognizes the initiation AUG?

A

tRNAi (initiator tRNA)

Base modifications exist between tRNA of initiating AUG and internal AUG

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6
Q

Modification of tRNAi in bacteria and mitochondria

A

Carries N-Formylated Methionine

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7
Q

What is the Wobble Hypothesis?

A

tRNA recognizes more than one codon for specific amino acid

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8
Q

Adherence to Watson-Crick rules in Wobble Hypothesis

A

First two bases follow Watson-Crick rules
Third base is less stringent

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9
Q

Reason for Wobble Hypothesis

A

Base at 5’-end of anticodon is not as spatially defined as other two bases
Enables nontraditional base-pairing with 3’-base of codon

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10
Q

What are the properties of the genetic code?

A

Unambiguous
Code is Degenerate
Universal
Without punctuation
Nonoverlapping

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11
Q

What are the types of mutations?

A

Point Mutation
Trinucleotide Repeat Expansion
Splice Site Mutations
Frame Shift Mutations

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12
Q

What is a Point Mutation?

A

Changing Single Nucleotide Base

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13
Q

What are the possible outcomes of Point Mutation?

A

Silent: No change in amino acid
Missense: Change of amino acid
Nonsense: Stop codon

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14
Q

What are the types of Missense Mutations?

A

Conservative: No change in protein functioning
Non-Conservative: Change in protein functioning

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15
Q

Diseases caused by Missense Mutation

A

Sickle Cell Anemia

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16
Q

What is a Trinucleotide Repeat Expansion?

A

Three bases are repeated multiple times

17
Q

Diseases causes by Trinucleotide-Repeat Mutations

A

Fragile X Syndrome
Huntington Disease

18
Q

Diseases caused by Splice Site Mutations

A

Myotonic Dystrophy

19
Q

What is Frame Shift Mutation?

A

Insertion/Deletion of one of two nucleotides which alters reading frame

20
Q

Example of disease caused by Frame Shift Mutation

A

Cystic Fibrosis Disease (phenyl alanine for functioning of Cl- channels lost)