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Unit 3 Exam Genetics Flashcards

(86 cards)

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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
Does having more haplotypes indicate more or less genetic diversity
more genetic diversity
26
What is the definition of linkage disequilibrium
the nonrandom association between genetic variants
27
Does low recombination indicate high or low LD
high LD
28
what would a low LD also indicate
high recombination, therefore indicating that you do not see association between alleles at different positions in the genome
29
If LD is high is it possible to pinpoint specific alleles that might be making them sick
no it is almost impossible
30
GWAS are?
approach to determine link between phenotype and genotype
31
Functional genomics do what
characterize what sequences do
32
Microarrays are good for looking at
transcriptome, genes that are upregulated and downregulated
33
True or False, methylated changes are preserved and can be passed on
true
34
Three ways histones can be modified
methylation, acetylation, phosphorylation
35
Genomic imprinting results in
switching off one copy of or a group of gene(s), genetic diseases can be caused by deletions of the non-imprinted copy
36
definition of a paramutation
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
Behavioral epigenetic looks at
epigenetic changes associated with behaviors such as stress or anxiety for example
38
what is the epigenome
the overall pattern of chromatin modification possessed by each individual
39
what is a morphogen
substance whose relative amount determines fate of cells (expression gradient)
40
what are the two main axis of development
dorsal/ventral axis and anterior/posterior axis
41
What is significant about egg polarity genes in unfertilized egg, and what is this called
they are transcribed into fully functional mRNAs before fertilization, called the maternal effect
42
Dorsal protein does what
gets localized in ventral portion to differentiate ventral axis
43
Cactus does what and is highly expressed where
binds dorsal trapping it in the cytoplasm, it is highly expressed in the dorsal region
44
what does toll do
phosphorylates and degrades cactus
45
What does twist do
high nuclear concentrations of dorsal activate twist causing ventral tissues to develop
46
low nuclear concentrations of dorsal have what effect
activation of decapentaplegic which causes dorsal tissues to develop
47
What does bicoid do
becomes anchored to anterior head and stimulates head development
48
What does nanos do
localizes at posterior end to distinguish posterior axis
49
What are the three classes of segmentation genes
gap genes, pair-rule genes, and segment polarity genes
50
what is the effect of mutation in gap genes
eliminate whole groups of adjacent segments
51
what is the effect of mutation in pair rule genes
can either cause the even skipped segments to be eliminated or the odd skipped segments to be eliminated
52
what is the effect of mutation in segment polarity genes
mess with development of individual segments, i.e gooseberry mutation which causing the posterior and anterior parts of each segment to switch
53
mutations in ubx result in what
changes in wing development
54
What are the two mutagens expressed in the anterior
bicoid and hunchback
55
What are the two mutagens expressed in the posterior
caudal and nanos
56
what do homeotic genes do
they become active and determine the identity of each developing body segment
57
the antennapedia complex affects what
drosophila head and anterior thorax
58
the bithorax complex affects what
development of the posterior thoracic and abdominal segments
59
What do hox genes code for in mammals
encode transcription factors that help determine identity of body regions along anterior axis
60
for developmental regions of the genome, would methylation be reduced or enhanced in regions where expression is needed
reduced
61
define cancer
presence of cells which do not respond to normal controls of cell division
62
true or false, cancer is a homogenous disease
false
63
when a stimulatory gene becomes hyperactive in cancer cells they are called
oncogenes (90% of cancers)
64
inhibitory genes that become inactive in cancer are called
tumor suppressor genes (10% of cancers)
65
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
Let-7 controls ras if mutates, ras no longer controlled = cancer low levels of let-7 seen in smokers
66
in people with cancer what is indicative of their epigenetics
hypomethylation
67
how can viruses cause cancer
by mutating or rearranging host genes
68
does evolution operate on the individual or the population
population
69
what are the assumptions of Hardy-Weinberg
population is large, randomly mating and not affected by mutation, migration and selection
70
What is positive assortive mating
when animals chose to mate with those similar to themselves
71
What is negative assortive mating
when animals avoid mating with persons similar to themselves
72
What are the genetic effects of inbreeding (not the phenotypic effects)
causes increase in homozygotes, proportion of heterozygotes decreases
73
what is genetic drift
change in the frequency of an existing gene variant in a population due to random sampling of organisms
74
what is the founder effect
loss of genetic variation when a new population is established by a very small number of individuals from a larger population
75
What is a genetic bottleneck
sharp reduction in the side of a population due to environmental events or human activities which causes loss of genetic variation
76
what is allelic fixation
change in a gene pool where there used to be two alleles for a given locus and now only one allele remains
77
what are the three types of allelic selection (not the graphs but think the chart)
Directional, overdominance, underdominance
78
rate at which selection changes allelic frequencies depend on what
the frequency of the alleles themselves, the more frequent an allele is before selection gives it a greater ability to proliferate
79
What are the three types of general selection patterns (think graphs not charts)
directional, stabilizing, disruptive
80
non-synonymous mutations are
a mutation which causes a change in amino acid
81
synonymous mutations are
mutations with an SNP that doesnt change the amino acid sequence
82
what does a high dN/dS ratio mean
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
adaptive phenotypes are linked to
changes in gene expression
84
What is the difference between prezygotic prevention and postzygotic prevention
prezygotic stops ability to make fertilized zygotes, postzytotic allows fusion of gametes but stops gene flow in offspring (sterility usually)
85
Define alopatric speciation
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
define sympatric speciation
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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