Mutations and Genetic Diseases (Module 8) Flashcards

1
Q

Somatic cell mutation

A

Not sex cells, so not heritable

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2
Q

germ-cell mutations

A

sex cell mutations, heritable

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3
Q

What is a point mutation?

A

Substitutions, mistaken base

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4
Q

Insertion mutation

A

extra base added to a strand

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5
Q

Deletion mutation

A

dropping a base

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6
Q

Frame shift mutation

A

mutation causes different interpretation which leads to different amino acid

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7
Q

What is induced mutation?

A

results from exposure to outside agent

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8
Q

During what event do most spontaneous mutations occur?

A

In replication

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9
Q

What are the 3 main sources of mutation during replication?

A

Mismatched bases, strand slip ups (deletion/insertion), chemical changes cause bases to be misread

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10
Q

What does DNA polymerase do?

A

Adds bases to new strand and proofreads before moving on.

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11
Q

Carcinogen

A

Chemicals that cause cancer

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12
Q

Mutagen

A

factor that cause increase in mutation rates

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13
Q

What are the two categories of mutagens?

A

Neutral- amino acid still creates normal protein

Functional change- amino acid makes protein with a different function

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14
Q

Why are free radicals bad?

A

They react with other chemicals and cause strand breaks or mispairing

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15
Q

What occurs with a silent mutation?

A

There is no effect on amino acid or protein

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16
Q

What occurs with a missense mutation?

A

Alters code, creating a different amino acid

17
Q

What occurs with a nonsense mutation?

A

Creates a STOP codon in the middle of the sequence

18
Q

What occurs with a gain of function mutation?

A

The sequence creates protein with a new function

19
Q

What is the physiological basis of cystic fibrosis?

A

autosomal recessive

20
Q

What causes Sickle cell anemia?

A

Chromosome II protein, complex hemoglobin