Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

1st year: MCO > last test > Flashcards

last test Flashcards

1
Q

Dan Barber

A

different flavoured wheat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

genomics vs genetics

A

genomics is technology used to generate large datasets of digital info (materials)

genetics is method of experimentation used to understand cause and effect between genes and phenotypic variation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what things can be understood with genetic methods

A 
cancer
diabetes/obesity
eye disorders
heart disorders
infectious disease
nervous system
digestive system
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

model organisms

A

mice experiments led understanding of human genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Norman Borlaug

A

interested in cereals

can change architecture of plant through genetics, to improve and produce more food - increased yield

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

plant breeding limits

A

high yields, less starvation, wealth

but high inputs so not very sustainable

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

John Beddington

A

by 2030 we need to be producing 50% more food and energy and 30% more fresh water

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

chromosomes

A

coloured bodies
most of the time DNA is decondensed because need to be accessed by machinery to transcribe and translate

only during division is it condensed to chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

plant chromosomes

A

are flexible in terms of number of them

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

chromosome structure

A

telomeres - ends
centromere - spindle attachment
euchromatin - lot genetic info
heterochromatin - structural movement, little genetic info
kinetochore - where microtubules attached

2 copies, 2 sister chromatids make up chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

centromere position

A

telocentric - at end so only 1 arm
acrocentric - bit below end
submetacentric - almost centre
metacentric - in the middle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Giemsa stain

A

banding pattern

shows more info on location of what’s on chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

drosophila polytene chromosomes

A

replicated DNA strands do not separate during interphase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

cell cycle

A

most of the time in interphase

short time in division phase (mitosis/meiosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

prophase

A

centrosome duplicates and begins to move to poles
chromosomes condense
nuclear membrane breaks
spindle forms from centrosome to centromere

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

bipolar attachment

A

both side of chromosomes attached by microtubules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

when do chromatids become chromosomes

A

sister chromatids separate from each other during anaphase and when separate, are now chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

cohesin

A

attaches chromatids in chromosome

destroyed enzymaticaly by separase breakdown

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

synaptonemal complex

A

homologous chromosomes brought together, attached along full length

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

crossing over

A

nicks along length of chromatid in prophase, repaired or 2 chromatids swap segments

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

chiasmata

A

microscopy term

see where crossing over has occurred

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

monopolar kinetochores

A

chromosomes attached to spindle

1 side of microtubule to 1 chromosomes, other side to other chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

female gamete

A

only 1 gamete goes onto next generation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

5 stages of prophase

A 
leptotene
zygotene
pachytene
diplotene
diakinesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

leptotene

A

chromosomes condense and become visible
homolog pairing
double-stranded DNA breaks for crossing over

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

zygotene

A

synaptonemal complex between homologous pairs

paird homologs now are bivalents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

pachytene

A

condensing
synaptonemal complex complete
tetrads - bivalents have 4 chromatids
crossing over complete

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

diplotene

A

synaptonemal complex disassembles
pair of chromatids begin to separate
chiasmata visible

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

diakinesis

A

chromosomes repel each other
non-sister chromatids loosely associated via chiasmata
nuclear membrane disappear
monopolar attachment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

total no. possible gamete combinations

A

2^ no. chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

experimental method

A

assemble robust experimental system

carefully design and perform first experiment and quantify results to generate lots data

repeat with diff starting materials

analyse data and derive predictive model

devise experiments to test predictions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Mendel’s experimental method

A

self pollination to make sure they’re true bred

1st experiment - 1st generation outcross

repeat with diff things - seed shape/colour

analyse data to get model - ratio

test ratio

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

first law of inheritance

A

heredity is controlled by paired factors (alleles) that separate in gametes and are joined upon fertilisation in offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

size of human genome

size of wheat genome

A

3,300

16,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Barbara McClintock

A

discovery of gene switches in maize

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Transposable element

A

DNA sequence that can change its position within the genome

jumping occurs during mitosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

different outcomes depending on position of transposable element

A

element inserted into coding region of gene - protein produced not expressed/not functional

in promoter - not being transcribed

other region - no effect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

promoter region vulnerable to…

and what does this mean?

A

methylation (no changes in base pair sequence, adding of methyl group doesn’t allow transcription)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

epigenetics

A

heritable changes in gene expression that are not caused by changes in DNA sequences

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

types of epigenetics

A

methylation

histone protein stopped from uncoiling (can’t access to transcribe)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Ruth Sager

A

discovered DNA in mitochondria (so inherit them but not like mendelian inheritance)
early pioneer in cancer genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

biochemical evidence of symbiosis

A

mitochondria communicate with the nucleus via trafficking proteins and RNAs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

genetic evidence of symbiosis

A

nucleus contains genes that encode mitochondrial proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

mitochondrial genome

A

wide variation on size (16kb humans, 80 yeast, 100kb to 2Mb plants)

circular genome

contains genes for tRNAs, rRNAs, cytochrome oxidase, ATPase subunit, NADh-dehydrogenase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

chloroplast genome

A

80-600 kb

circular genome

genes for redox proteins involved in electron transport for photosynthesis

lots of non-coding DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

mitochondrial variation only comes from mother because…

A

more space for mitochondria in egg than sperm

does not involve meiotic segregation but organelles acquired at cell division from maternal cytoplasm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Variegation

A

diversity of colours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

genetic evidence from 2 types of Petite mutants

A

segregational mutants - mendelian segregation following meiosis, genes located in nucleus

vegetative mutants - non mendelian pattern, genes located on mitochondria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

2 categories of vegetative petites

A

neutral - cross with wild type and all wild type offspring (4:0 ratio), lack most of their mitochondrial DNA

suppressive - cross with wild type and all petites offspring (0:4 ratio), lack only small segments of mtDNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

yeast inherit mitochondria…

A

from both parents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

why do suppressive petite mitochondria produce all petites when crossed with wild type even though mitochondria inherited from both parents in yeast?

A

suppressive petite mitochondria replicate faster and dominate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

mitochondrial genome sequencing

A

maternity analysis
phylogenetic systematics
population genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

why do we use mitochondrial genome sequencing?

A

EASY to isolate and PCR amplify mtDNA due to high copy number per cell

maternal inheritence mtDNA enables analysis of MATERNAL POPULATION STRUCTURE w/o confusion of male-mediated gene flow

no recombination of mtDNA so very SLOW TO EVOLVE

mutations that do occur are rapidly FIXED in population

54
Q

genomic imprinting

A

form of gene expression in which an allele of the affected gene is marked or imprinted in one of the parents, and can be passed on through meiosis to offspring

marked by methylation or histone modification

55
Q

why investigate chromosomal mutations?

A

cytological insight into meiosis

medical insight in causes of genetic disease (down syndrome)

molecular insight of how genes interact throughout a genome

evolutionary insight

56
Q

monoploid/haploid
diploid
triploid
tetraploid

aneuploid

A

n
2n
3n
4n

change in number of some but not all chromosomes

57
Q

monoploidy

A

non-viable in most animal species
deleterious mutations would be effective (no other chromosome to overcome mutation in 1 chromosome)

some social insect males are monoploid, develop by parthenogenesis

58
Q

polyploidy examples

A

triploid - bananas
tetraploid - coffee, cotton, peanut, potato, oilseed rape
hexaploid - oat, wheat
octaploid - strawberry

paleotetraploid - cabbage, soybean (act as diploid)

59
Q

rare polyploidy animals

A

tetra - african clawed frog,viscacha rat, rainbow trout

60
Q

Brassicacea species

A

polyploidy and speciation

61
Q

size…. with…… ploidy

A

increases

higher

62
Q

autopolyploid

A

derived from same diploid species (diploid duplicated but doesn’t divide, stays in 1 cell)

63
Q

allopolyploid

A

derived from different progenitor species (2 diploid species merged)

64
Q

colchicine

A

used to disrupt spindle assembly and thereby block chromosomal segregation

65
Q

meiosis of triploid

A

produces aneuploid gametes
highly sterile

separate into bivalent (2 chromosomes) and univalent (1)

66
Q

non-disjunction

A

meiosis malfunctions e.g. dont separate in opposite but come together so monosomic (no pairs, 1 chromosome so lethal) and trisomic (3 chromosomes, lethal)

67
Q

miss-aligned repeat sequences

A

unequal crossing-over and gain/loss of repeats

68
Q

large segmental inversions

A

break and repair with inversion

69
Q

pericentric inversion

A

encompasses the centromere (with centromere in middle of segment that’s inverted)

70
Q

paracentric inversion

A

doesn’t encompass centromere, so segment to the side not involving centromere

71
Q

meiosis with inverted heterozygotes

A

1 chromosome needs to form inversion loop so that pair correctly with other chromosome (loops to flip)

crossing over will create dicentric and acentric chromosomes

72
Q

Mendel’s first law of inheritence

A

discrete trait
complete dominance
environmentally stable phenotype (easy to work with)

73
Q

are chromosomes the unit of heredity?

A

NO

crosses show non-parental recombinant phenotypes which wouldn’t be seen if chromosomes were unit of heredity

74
Q

the chromosome theory is consistent with…..but

A

Mendel’s second law

this isn’t proof

75
Q

Thomas Hunt-Morgan

A

established fruit fly as model for genetics

actually observed that non-parental phenotypes almost don’t show up so doesn’t meet either hypothesis (not equal but not 0) - 17% non-parental types

76
Q

frequency of recombination

A

frequency at which alleles are co-inherited

77
Q

what hypothesis drawn from Thomas Hunt-Morgan’s experiments?

A

not on different chromosomes because not all equal phenotypes like 1st hypothesis

maybe on same chromosome but recombination occurs - frequency to do with distance between alleles
far enough apart - crossing over occurs like independent assortment

78
Q

Alfred Sturtevant experiment to test new hypothesis

A

3rd gene 8% recombination so fits in between 2 other genes because b–vg (17%) and b–cn (9%)

can map out linear order of genes

79
Q

double recombination

A

take distance between the 2 and multiply to get percentage of recombination

far enough apart that cross can happen twice

80
Q

linear model

A

genes are physically located in a linear manner along a chromosome

81
Q

0% recombination
50% rec.
1% rec.

A

genes tightly linked or possibly the same gene

independently assorting/ unlinked/ on diff chromosomes/ far apart on same chromosome

1 Map Unit = 1 centiMorgan (cM)

82
Q

positional cloning

A

narrow down region where gene occurs (mendelian trait)

1) identify genes location (locus) from genome-wide search of linkage to markers
2) sequence the DNA across the locus, in both wild type and mutant
3) verify function of the causal gene

83
Q

molecular marker

A

difference in DNA sequence (DNA polymorphism) between 2 individuals

differences due to mutation

84
Q

segmental rearrangement

A

flipped part of sequence

85
Q

Muriel Wheldale

A

snapdragon colours unpredictable, new colours come out of nowhere, cross breed and count number of flowers of each colour, multiple genes work together

86
Q

discrete traits are……… in a species and most…..

A

unusual

discrete genes will be lethal so unusual to see

87
Q

complete dominance

incomplete dominance

overdominance

A

AA and Aa max expression

AA max, Aa is intermediate (like medium height not tall)

Aa max, AA intermediate (maybe to do with interaction between both alleles, provides bigger effect)

88
Q

full penetrance

partial penetrace

A

AA and Aa max

AA medium, Aa weak

89
Q

redundancy

A

duplicate genes that provide the same function

90
Q

complementary genes

A

phenotype depends on both genes being functional

91
Q

bean seed colour

A

offspring contains only 1 that’s white like parent and no like brown parent
lots of genes involved produce lots diff combinations of colours

92
Q

Fisher

A

developed mathematical approach to explain Mendelian factors as basis of quantitative traits
complexity of genes creates smooth curve

93
Q

linkage mapping

A

derived from a controlled cross of known parentage, that exhibit contrasting phenotype and are polymorphic in many DNA markers (genome-wide)

so find where gene locus is by finding markers that define interval

94
Q

linkage mapping pros

A 
no question of dominance
immortal lines
powerful data accumulation
reproducibility
GxE experiments possible
inter-mating inbreds, to test genetic models
95
Q

linkage mapping cons

A

finite resource

96
Q

selfing

A

2 same chromosomes so all homozygous but different from other offspring

97
Q

MAGIC LINES

A 
Multiparent
Advanced
Generation
Inter
Cross

more parents means more alleles for more genes

98
Q

LOD score

A

Logarithm Of the Odds
statistical test for linkage

=log10(likelihood that 2 loci are linked/likelihood that 2 loci are unlinked)

99
Q

artificial mutation vs natural variation

A

artificial is the main source of genetic variation used for research in experimental genetic models

natural is the main resource for translational genetics

100
Q

simple Mendelian genetic disease variation

A

easy to investigate
single mutation associated with disease
rare allele

Huntignton’s, CF, Duchenne muscular dystrophy, BRCA1 breast cancer

101
Q

complex or multifactorial genetic disease variation

A

difficult to investigate
multiple genes involved
cumulative affect of weakly expressed common alleles
disease risk influenced by non-genetic factors

various cancers, heart diseases, IBS, diabetes, Parkinsons, Alzheimers

102
Q

pedigree analysis

A

use diagram to summarise inheritance of discrete trait in family history

female circle, male square, unknown diamond
phenotype of interest is coloured

103
Q

autosomal dominant disease exampes

A

Huntington’s
Hereditary retinoblastoma
Achondroplasia

104
Q

X chromosome sex-linked recessive examples

A 
Haemophilia
Red-green vision
Christianson syndrome
Fragile X syndrome
Duchenne muscular dystrophy
105
Q

Y chromosome sex-linked recessive examples

A

Y chromosome infertility

Swyer syndrome

106
Q

X chromosome sex-linked dominant examples

A

Incontinentia pigmenti
Charcot-Marie tooth neuropathy
Coffin-Lowry syndrome
Hypophosphatemic rickets

107
Q

types of molecular markers

A

RFLP - no one uses it anymore
SSR - Simple Sequence Repeats
SNP - Single Nucleotide Polymorphisms

108
Q

SSR

A

in between genes are repeating sequences
repeats vary in terms of copy number

more repeats = bigger PCR product

109
Q

linkage mapping with SSRs

A

1) collect info (genetic disease family)
2) PCR - determine genotypes
3) statistical linkage analysis - identify SSRs linked to disease
4) identify new molecular markers from within locus

110
Q

Z max

A

highest LOD score

111
Q

how to find causal gene of genetic disease

A

1) define fine map interval
2) identify candidate genes - within interval
3) loss-of-function
4) gain-of-function (knock out mutant)

112
Q

SNP

A

molecular marker based on single base-pair substitutions

mutation rate 1x10^-9 per locus per generation

Most SNPs in non-coding sequence (because affecting function is selected against)

SNPs within exon will not alter AA (synonymous mutations)

113
Q

synonymous mutations

A

in exon but won’t alter AA

114
Q

association mapping

A

need high resolution of genetic variation located on a physical map of a reference genome

need large set of phenotypic data

115
Q

linkage disequilibrium

A

sequence variation

coloured block smaller if older species because more time for variation

116
Q

genetic structure of a population

A

number of alleles and frequency of each within a population (gene pool)

genotype frequency/allele frequency

117
Q

geographic patterns

A

in distribution of allelic variation within and amongst sub-populations

118
Q

temporal changes

A

in genetic structure of populations

119
Q

Hardy-Weinberg principle

A

investigating movement of genes and alleles in populations
understanding mechanisms of evolution

p^2 + 2pq + q^2 = 1

120
Q

Hardy-Weinberg assumptions

A

infinitely large population
random mating
no new mutations, migration, natural selection

so entirely theoretical - no population is like this

121
Q

gene flow

A

introduces new alleles from migration

122
Q

types of natural selection

A

directional
stabilizing
disruptive
balancing

123
Q

directional selection

A

favours individuals at one phenotypic extreme, greater reproductive success in particular env.

124
Q

stabilizing selection

A

favours intermediate phenotypes - heterozygous, combined alleles
optimum

125
Q

disruptive selections

A

favours survival of 2 or more different genotypes each produce diff phenotypes
diverse env. so are diff but can still interbreed

2 optimums on graph

126
Q

balancing selection

A

2/more alleles kept in balance, maintained in population over many generations

heterozygote advantage e.g. sickle cell allele

127
Q

genetic drift

A

random loss of alleles from a population due to chance events
large populations more stable than small
results in loss of genetic variation

128
Q

genetic bottleneck

example?

A

sudden decrease in population size caused by adverse env. factors

e.g. black plague eliminated 75% of some populations

129
Q

founder effect

A

dispersal and migration that establish new populations with low genetic diversity

130
Q

non-random mating

A

assortative mating - similar phenotype so increase homozygotes

dissasortive mating - different phenotypes, favours heterozygotes

1st year: MCO (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions