Mutations and Translation Flashcards

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1
Q

Start codon

A

AUG

Codes for Methionine

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2
Q

During elongation, ribosome moves in what direction

A

5’ to 3’ direction along the mRNA

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3
Q

Nonsense mutation is

A

New codon is stop codon

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4
Q

Large segment deletion is

A

unequal crossover in meiosis

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5
Q

Examples in mutations in splice sites

A

Gaugher

Tay-Sachs

β-thalassemia

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6
Q

Missense mutation is

A

new codon specifies different AA

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7
Q

Frameshift mutation is

A

addition or deletion of bases

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8
Q

A transversion is a point mutation that

A

replaces a purine-pyrimidine base pair with a pyrimidine-purine base pair

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9
Q

Frameshift mutation affect

A

Unually nonfunctional

Often shorter than normal

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10
Q

A transition is a point mutation that

A

replaces a purine-pyrimidine base pair with a different purine-pyrimidine base pair

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11
Q

Codons are written in what direction

A

5’ to 3’

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12
Q

Mannose residues are phosphorylated by

A

N-acetlyglucosamine-1 phosphotransferase

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13
Q

Example of large segment deletion

A

α-thalassemia

Cri-du-chat

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14
Q

Affect of missense mutations

A

decrease in function

variable affect

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15
Q

Stop codons

A

UAA

UGA

UAG

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16
Q

Major symptoms of I-Cell disease

A
  1. Coarse facial features
  2. Gingival hyperplasia
  3. Macroglossia
  4. Craniofacial abnormalitites
  5. Joint immobility
  6. Clubfoot
  7. Claw-hand
  8. Retardation
  9. Growth retardation
  10. Cardiorespiratory failure
  11. Bone fracture and deformities
  12. MV defects