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Cell biology > Genetic mutations > Flashcards

Genetic mutations Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

What is an allele?

A

Alternative form of a gene found at the same locus on homologous chromosome

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2
Q

What is a genetic mutation?

A

Change in DNA sequence of a genome

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3
Q

What are germline mutation?

A

Mutation in germ cells

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4
Q

What are somatic mutations?

A

Mutation during development or adult life

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5
Q

Which type of mutation affects more cells?

a) germline
b) somatic

A

Germline

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6
Q

How can mutations be classified by affected cell type?

A

Germline or somatic mutations

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7
Q

What can loss of function cause?

A

Reduced activity or loss of gene product

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8
Q

What can gain of function cause?

A

Gene product acquires new function or altered expression levels

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9
Q

What is dominant-negative mutation?

A

Loss of function due to interference of the mutant gene product with the normal gene product

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10
Q

How can mutations by classified by the effect on function?

A

Loss of function
Gain of function
Dominant-negative

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11
Q

What is non-dysjunction?

A

Failure of chromosomes to seperate

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12
Q

What type of chromosomal abnormalities does non-dysjunction cause?

a) numerical changes
b) structural changes

A

a

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13
Q

What is aneuploidy?

A

The loss or gain of 1 or more chromosome

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14
Q

What is monosomy?

A

Loss of one chromosome

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15
Q

What is trisomy?

A

Gain of one chromosome

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16
Q

What is polyploidy?

A

Gain or one or more complete sets of chromosomes

17
Q

Why are numerical changes not common?

A

Cause embryonic lethality or severe diseases

18
Q

What causes structural changes

a) chromosome breakage and abnormal reunion
b) non-dysjunction

A

a

19
Q

What is translocation?

A

Transfer from 1 chromosome to another

20
Q

What is reciprocal?

A

2 chromosomes exchange segments

21
Q

What is a robertsonian change?

A

Breakpoint is near the centromere of acrocentric chromosomes

22
Q

What is an acrocentric chromosome?

A

1 arm much shorter than the other

23
Q

What is inversion?

A

Chromosome segment reversed in position

24
Q

What is a pericentric inversion?

A

Involves the centromere

25
Q

What is a paracentric inversion?

A

Involves only 1 arm of the chromosome

26
Q

Other than translocations and inversion what other structural changes can occur and what causes this?

A

Insertion and deletion due to unequal crossover during homologous recombination

27
Q

What is a ring chromosome?

A

Broken chromosome segment forms a ring

28
Q

What is an isochromosome?

A

Loss of 1 arm and duplication of the other

29
Q

What is a transition substitution?

A

Same type of nucleotide replaced (purine for purine)

30
Q

What is a transversion?

A

Different type of nucleotide replaced (purine for pyrimidine)

Cell biology (13 decks)

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