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Genetics > Unit 3 Exam Genetics > Flashcards

Unit 3 Exam Genetics Flashcards

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Biology 101 flashcards
1
Q

Transition mutation is what

A

purine to purine or pyrimidine to pyrimidine

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2
Q

Transversion mutations are

A

purine to pyrimidine or vice versa

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3
Q

Missense mutation definition

A

change in amino acid sequence

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4
Q

Nonsense mutation definition

A

premature stop codon

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5
Q

Silent mutation definition

A

mutation encodes same amino acid

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6
Q

Mutation that does not change the function of the protein is called

A

neutral mutation

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7
Q

complete or partial absense of normal protein function is what type of mutation

A

loss of function mutation

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8
Q

Microsatellites or tandem repeats cause what

A

disease where during replication hairpin forms at repeats and causes additional repeats increasing number of repeats on newly synthesized DNA strand

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9
Q

What is a tautomeric shift

A

positions of protons on bases change causing anomalous base pairing arrangements

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10
Q

UV light absorbed by DNA can cause

A

thymine dimers

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11
Q

Mobile DNA sequences that can move around the genome are called

A

transposable elements

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12
Q

Are flanking direct repeats part of the transposable element or not

A

no, they are a result of the insertion of the transposable element into different parts of the genome

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13
Q

Class 1 transposons are

A

retrotransposons, copy and paste mechanism

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14
Q

Class 2 transposons are

A

DNA transposons, both copy and paste and cut and paste mechanism

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15
Q

Sleeping beauty is what

A

synthetic transposable element

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16
Q

What are the two classes of restriction enzyme

A

sticky or blunt cuts

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17
Q

What is southern blotting do

A

use a probe to isolate a gene of interest

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18
Q

What does a cloning vector need in order to insert a gene of interest

A

origin of replication recognized in host cell, selectable markers, single cleavage site for each of one or more restriction enzymes used

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19
Q

What is the definition of forward genetics

A

start with phenotype to find genotype

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20
Q

what is the definition of reverse genetics

A

start with genotype and proceed to phenotype via alternating the sequence

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21
Q

What is the definition of site directed mutagenesis

A

adding sequences of interest to the genome of an organism that normally lacks the sequence

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22
Q

siRNAs do what

A

silence gene expression

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23
Q

a genetic map is the same as

A

linkage map

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24
Q

a physical map constructs what

A

individual nucleotides that make up entire chromosome

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25
Q

Does having more haplotypes indicate more or less genetic diversity

A

more genetic diversity

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26
Q

What is the definition of linkage disequilibrium

A

the nonrandom association between genetic variants

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27
Q

Does low recombination indicate high or low LD

A

high LD

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28
Q

what would a low LD also indicate

A

high recombination, therefore indicating that you do not see association between alleles at different positions in the genome

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29
Q

If LD is high is it possible to pinpoint specific alleles that might be making them sick

A

no it is almost impossible

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30
Q

GWAS are?

A

approach to determine link between phenotype and genotype

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31
Q

Functional genomics do what

A

characterize what sequences do

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32
Q

Microarrays are good for looking at

A

transcriptome, genes that are upregulated and downregulated

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33
Q

True or False, methylated changes are preserved and can be passed on

A

true

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34
Q

Three ways histones can be modified

A

methylation, acetylation, phosphorylation

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35
Q

Genomic imprinting results in

A

switching off one copy of or a group of gene(s), genetic diseases can be caused by deletions of the non-imprinted copy

36
Q

definition of a paramutation

A

interaction between two alleles at a single locus where one allele induces a heritable change in the other allele (change may be patterns of DNA methylation or histone modification)

37
Q

Behavioral epigenetic looks at

A

epigenetic changes associated with behaviors such as stress or anxiety for example

38
Q

what is the epigenome

A

the overall pattern of chromatin modification possessed by each individual

39
Q

what is a morphogen

A

substance whose relative amount determines fate of cells (expression gradient)

40
Q

what are the two main axis of development

A

dorsal/ventral axis and anterior/posterior axis

41
Q

What is significant about egg polarity genes in unfertilized egg, and what is this called

A

they are transcribed into fully functional mRNAs before fertilization, called the maternal effect

42
Q

Dorsal protein does what

A

gets localized in ventral portion to differentiate ventral axis

43
Q

Cactus does what and is highly expressed where

A

binds dorsal trapping it in the cytoplasm, it is highly expressed in the dorsal region

44
Q

what does toll do

A

phosphorylates and degrades cactus

45
Q

What does twist do

A

high nuclear concentrations of dorsal activate twist causing ventral tissues to develop

46
Q

low nuclear concentrations of dorsal have what effect

A

activation of decapentaplegic which causes dorsal tissues to develop

47
Q

What does bicoid do

A

becomes anchored to anterior head and stimulates head development

48
Q

What does nanos do

A

localizes at posterior end to distinguish posterior axis

49
Q

What are the three classes of segmentation genes

A

gap genes, pair-rule genes, and segment polarity genes

50
Q

what is the effect of mutation in gap genes

A

eliminate whole groups of adjacent segments

51
Q

what is the effect of mutation in pair rule genes

A

can either cause the even skipped segments to be eliminated or the odd skipped segments to be eliminated

52
Q

what is the effect of mutation in segment polarity genes

A

mess with development of individual segments, i.e gooseberry mutation which causing the posterior and anterior parts of each segment to switch

53
Q

mutations in ubx result in what

A

changes in wing development

54
Q

What are the two mutagens expressed in the anterior

A

bicoid and hunchback

55
Q

What are the two mutagens expressed in the posterior

A

caudal and nanos

56
Q

what do homeotic genes do

A

they become active and determine the identity of each developing body segment

57
Q

the antennapedia complex affects what

A

drosophila head and anterior thorax

58
Q

the bithorax complex affects what

A

development of the posterior thoracic and abdominal segments

59
Q

What do hox genes code for in mammals

A

encode transcription factors that help determine identity of body regions along anterior axis

60
Q

for developmental regions of the genome, would methylation be reduced or enhanced in regions where expression is needed

A

reduced

61
Q

define cancer

A

presence of cells which do not respond to normal controls of cell division

62
Q

true or false, cancer is a homogenous disease

A

false

63
Q

when a stimulatory gene becomes hyperactive in cancer cells they are called

A

oncogenes (90% of cancers)

64
Q

inhibitory genes that become inactive in cancer are called

A

tumor suppressor genes (10% of cancers)

65
Q

Let-7 normally controls what, and what is the effect of a mutation in let-7, and what populations are lower levels of let-7 seen in

A

Let-7 controls ras if mutates, ras no longer controlled = cancer low levels of let-7 seen in smokers

66
Q

in people with cancer what is indicative of their epigenetics

A

hypomethylation

67
Q

how can viruses cause cancer

A

by mutating or rearranging host genes

68
Q

does evolution operate on the individual or the population

A

population

69
Q

what are the assumptions of Hardy-Weinberg

A

population is large, randomly mating and not affected by mutation, migration and selection

70
Q

What is positive assortive mating

A

when animals chose to mate with those similar to themselves

71
Q

What is negative assortive mating

A

when animals avoid mating with persons similar to themselves

72
Q

What are the genetic effects of inbreeding (not the phenotypic effects)

A

causes increase in homozygotes, proportion of heterozygotes decreases

73
Q

what is genetic drift

A

change in the frequency of an existing gene variant in a population due to random sampling of organisms

74
Q

what is the founder effect

A

loss of genetic variation when a new population is established by a very small number of individuals from a larger population

75
Q

What is a genetic bottleneck

A

sharp reduction in the side of a population due to environmental events or human activities which causes loss of genetic variation

76
Q

what is allelic fixation

A

change in a gene pool where there used to be two alleles for a given locus and now only one allele remains

77
Q

what are the three types of allelic selection (not the graphs but think the chart)

A

Directional, overdominance, underdominance

78
Q

rate at which selection changes allelic frequencies depend on what

A

the frequency of the alleles themselves, the more frequent an allele is before selection gives it a greater ability to proliferate

79
Q

What are the three types of general selection patterns (think graphs not charts)

A

directional, stabilizing, disruptive

80
Q

non-synonymous mutations are

A

a mutation which causes a change in amino acid

81
Q

synonymous mutations are

A

mutations with an SNP that doesnt change the amino acid sequence

82
Q

what does a high dN/dS ratio mean

A

genes under directional selection are more likely to show non-synonymous mutations therefore a high dN/dS ratio means something is acting on the protein so look for genes that are having selection act upon them right now

83
Q

adaptive phenotypes are linked to

A

changes in gene expression

84
Q

What is the difference between prezygotic prevention and postzygotic prevention

A

prezygotic stops ability to make fertilized zygotes, postzytotic allows fusion of gametes but stops gene flow in offspring (sterility usually)

85
Q

Define alopatric speciation

A

one species becomes separated for long enough that enough evolution has happened between the two groups so that if they were reintroduced they would not give offspring

86
Q

define sympatric speciation

A

strong disruptive selection pressure usually in the form of resource partitioning acts on a population causing them to split and not mate with each other any more eventually leading to two species

Genetics (9 decks)

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