Unit 2: Sources of genetic variation Flashcards

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1
Q

Mutation

A

An inherited change in genetic information

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2
Q

An inherited change in genetic information

A

Mutation

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3
Q

Mutations are a source of _______ and _______

A

genetic variation; diseases

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4
Q

How are mutations used to help in understanding basic biological processes? What is this technique called?

A

Studying mutations that disrupt normal processes often leads to the identification of genes that normally play a role in the process and can help in understanding the molecular details of a process. This technique is called genetic dissection.

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5
Q

Somatic mutations

A

Mutations which arise in somatic (body) tissues. It’s the basis for cancers.

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6
Q

germ-line mutation

A

Mutations that arise in cells that ultimately produce gametes

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7
Q

gene mutation

A

Mutations that arise within a single gene

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8
Q

base substitution

A

The simplest type of gene mutation that is the alteration of a single nucleotide in DNA

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9
Q

transition

A

A purine is replaced by another purine. Same for pyrimidines.

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10
Q

transversion

A

A purine is replaced by a pyrimidine or vice versa.

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11
Q

insertion

A

The addition of one or more nucleotide pairs

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12
Q

deletion

A

The removal of one or more nucleotide pairs

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13
Q

frameshift mutation

A

Changes in the reading frame of a gene

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14
Q

in-frame insertion/deletion

A

Mutations not affecting the reading frame. Consist of insertions or deletions occurring in multiples of three.

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15
Q

expanding nucleotide repeat

A

Mutations in which the number of copies of a set of nucleotides increases in number.

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16
Q

forward mutation

A

A mutation that alters a wild type phenotype

17
Q

reverse mutation

A

A change from the mutant phenotype back into the wild type phenotype

18
Q

missense mutation

A

A base substitution that results in a different amino acid in the protein

19
Q

nonsense mutation

A

A mutation that changes a sense codon (one that specifies an amino acid) into a nonsense codon (one that terminates translation).

20
Q

silent mutation

A

A mutation that changes a codon to another codon that specifies the same amino acid

21
Q

neutral mutation

A

A missense mutation that alters the amino acid sequence of the protein but does not change its function

22
Q

Loss-of-function mutations

A

Mutations that cause the complete loss or partial absence of normal protein function

23
Q

Gain-of-function mutations

A

Mutations which produce an entirely new trait or cause a trait to appear in the wrong place or the wrong time

24
Q

Conditional mutations

A

Mutations expressed only under certain conditions

25
Q

Lethal mutations

A

Mutations that cause premature death

26
Q

Suppressor mutation

A

A genetic change that hides or suppresses the effect of another mutation

27
Q

Intragenic suppressor mutation

A

A suppressor mutation in the same gene as that being suppressed

28
Q

Intergenic suppressor mutation

A

A suppressor mutation in a different gene as that being suppressed

29
Q

Mutation rate

A

The frequency with which a wild-type allele at a locus changes into a mutant allele

30
Q

3 factors that affect mutation rate

A

1) The frequency with which the change will take place in DNA
2) The probability that a mutation will be repaired
3) The probability that a mutation will be recognized and recorded

31
Q

Adaptive mutation

A

The process where stressful environments induce mutations so the species can survive

32
Q

Spontaneous mutations

A

mutations that occur under normal conditions

33
Q

Induced mutations

A

Mutations that result from changes caused by environmental chemicals or radiation