Week 2-DNA REPLICATION AND REPAIR Flashcards

1
Q

What is the central dogma of molecular biology?

A

DNA - RNA - Protein

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2
Q

What are the three types of stop codons?

A
  • UAA
  • UAG
  • UGA
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3
Q

How many codons are there in the genetic code?

A

64 codons

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4
Q

How many amino acids are encoded by the genetic code?

A

20 amino acids

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5
Q

What does the ‘wobble hypothesis’ refer to?

A

1 tRNA may bind with +1 codons

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6
Q

What is a mutation?

A

A permanent alteration in genetic structure

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7
Q

What are the two types of mutations?

A
  • Gross change involving several/many nucleotides
  • Change involving a single nucleotide
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8
Q

What is a point mutation?

A

Change involving a single nucleotide

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9
Q

What are the three types of base substitutions?

A
  • Silent mutation
  • Nonsense mutation
  • Missense mutation
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10
Q

What is a silent mutation?

A

No change in amino acid translated

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11
Q

What is a nonsense mutation?

A

‘Stop’ codon formed

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12
Q

What is a missense mutation?

A

Change in amino acid translated

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13
Q

What is a frameshift mutation?

A

Extensive codon changes downstream from insertion or deletion

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14
Q

What is cystic fibrosis inherited in?

A

Autosomal recessive manner

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15
Q

What is the cytogenetic location of the CFTR gene for cystic fibrosis?

A

7q31.2 base pairs 117,120,016 to 117,308,718

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16
Q

What does mutagenesis refer to?

A

The process by which mutations arise

17
Q

What are the two types of mutation origins?

A
  • Spontaneous
  • Induced
18
Q

What is a tautomeric shift?

A

Transient change in base structures

19
Q

What is the role of DNA polymerase during replication?

A

Synthesizes DNA 5’ to 3’ and has 3’ to 5’ exonuclease activity

20
Q

What happens if a spontaneous mutation is not corrected?

A

May undergo mismatch repair following replication

21
Q

What is xeroderma pigmentosum?

A

Rare autosomal recessive disorder with elevated risk of developing sunlight-induced cancers

22
Q

What is the primary defect in xeroderma pigmentosum?

A

Deficiency in nucleotide excision repair complex

23
Q

What is the first step toward gene therapy for xeroderma pigmentosum?

A

Correction of 2 base pair deletion in XPC gene

24
Q

What is the genetic disorder caused by a defect in the CFTR protein?

A

Cystic fibrosis

25
Q

Fill in the blank: The genetic code is _______.

A

[degenerate]

26
Q

True or False: All mutations lead to genetic disorders.

A

False