Chapter 19 Flashcards

(38 cards)

1
Q

What is homologous recombination

A

Involves exchange of identical or similar dna segments between homologous chromosomes

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2
Q

What are some examples of mutations

A

Changes in chromosome structure and number of
Changes in dna of a single gene

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3
Q

What is a point mutation

A

Change in a single base pair and can involve a base substitution

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4
Q

What is a transition

A

Change of a pyrimidine to another pyrimidine or purine to another purine

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5
Q

What is a transversion

A

Change of a pyrimidine to a purine and vice versa

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6
Q

True or false: transversions are more common than transitions

A

False other way around

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7
Q

What is a silent mutation

A

Substitutions that don’t alter amino acid sequence of the polypeptide

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8
Q

What is a missense mutation

A

When an amino acid is changed into a different amino acid

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9
Q

Nonsense mutations

A

Change a normal codon to a stop codon

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10
Q

What is a frame shift mutation

A

Involves deletion or addition of nucleotides that mess up the reading frame

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11
Q

What do up and down promoter mutations do

A

Up promoters increase transcription
Down promoters decrease transcription

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12
Q

What is a forward mutation and what is a reverse mutation

A

Forward is a change in the wild type into some new variation
Reverse mutation changes mutant allele back to wild type (also known as reversion)

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13
Q

What is a deleterious mutation and what is a beneficial mutation

A

Deleterious decreases the chances of survival
Beneficial enhances survival or reproductive success of an organism

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14
Q

What are conditional mutations

A

Affect phenotype only under defined set of conditions

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15
Q

What do suppressor mutations do

A

Reverse phenotypic effects of another mutation
Also called second sight mutations

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16
Q

What is an intragenic suppressor

A

When the second mutation is within the same gene as the first mutation

17
Q

What is an INTERgenic suppressor

A

Second mutation is in a different gene than the first

18
Q

How does a redundant function work in intergenic suppressors

A

First mutation inhibits the function of a protein and the second alters a different protein to out that function

19
Q

What is a common pathway in intergenic suppressors

A

A mutation that causes a defect in one enzyme may be compensated for by a mutation that increases the function of a different enzyme in the same pathway

20
Q

What is a multimeric protein in an intergenic suppressor

A

Mutation in gene encoding one protein that inhibits a function may be suppressed by a mutation in a gene that encodes for a different subunit

21
Q

What is a transcription factor in an intergenic suppressor

A

First mutation causes loss of function of a particular protein
Second mutation may cause it to activate the expression of another gene which can compensate for the loss of function caused by the first mutation

22
Q

What is a position effect

A

When the expression of a gene may be altered because of its new location

23
Q

What are germ line cells and what are somatic cells

A

Germ line cells are Cells that give rise to gametes such as eggs and sperm
Somatic cells are everything else

24
Q

What are germ line mutations and what are somatic mutations

A

Germ line are those that occur directly in a sperm or egg cell or in a precursor cell
Somatic are those that occur directly in a body cell not part of the germ line

25
How does size of patching relate to somatic mutations
The earlier the mutation the larger the patch
26
What is genetic mosaic
An individual with somatic regions are genotypically different from the rest of the body
27
What are spontaneous mutations
Result from abnormalities or errors in dna replication
28
What are induced mutations
Caused by environmental agents
29
What are mutagens
Agents that are known to alter dna structure
30
What is depurination
Removal of a purine Apurinic sites can be repaired but if it fails a mutation may result during dna replication because polymerase will add a random base
31
What is deamination of a cytosine
Removal of an amino group from cytosine base
32
Why do methylated cytosines create hot spots for mutation
Because 5 methyl cytosine can be deaminated to thymine and repair enzymes cannot determine which of the two bases on the dna strand is incorrect
33
What is a tautomeric shift
Temporary change in base structure Common stable form of thymine and guanine is the keto form Common stable form of adenine and cytosine in the amino form
34
What do aerobic organisms produce
Reactive oxygen species which include hydrogen peroxide, superoxide, and hydroxyl radical
35
What is oxidative stress
Imbalance between production of ROS and an organisms ability to break them down
36
What can ROS accumulation lead to
Oxidative dna damage
37
What are tri nucleotide repeat expansion mutations
Mutations caused by hair pin loop during replication There is suggestion that TRNE can occur more frequently in oogenesis and spermatogenesis depending on the gene which is known as anticipation
38
How can a hair pin form in a TNRE
There is at least one C and G Hairpin leads to increase or decrease in length