Midterm 1 Flashcards

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1
Q

genetics is the branch of biology that deals with

A

heredity and variation

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2
Q

genetics is used to analyze genes –

A

in vivo

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3
Q

two plant breeders who paved the way for Mendel’s experiments

A

Thomas Knight and John Goss

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4
Q

peas were good because

A

short generation time, numerous varieties available, ability to cross fertilize and self-fertilize

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5
Q

Goss established: peas were a good genetic system with clear –

A

heritable traits

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6
Q

Goss established: parental characteristics could disappear for a generation and then reappear which could only be explained if units of heredity were – in nature

A

particulate

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7
Q

Mendel brought methods that were – to biology

A

standard in Physics

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8
Q

Mendel’s contributions

A

limited the number of variables
quantitated resulta
model that can be tested

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9
Q

visible characteristics

A

phenotype

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10
Q

Mendel’s hybrids had - in F1

A

uniformity

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11
Q

Mendel’s hybrids tended to – in F2

A

revert to parental phenotypes

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12
Q

Mendel’s theory: heredity determinants are of a – nature

A

particulate

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13
Q

Mendel’s theory: each adult pea has – determinants for each character

A

2

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14
Q

Mendel’s theory: the – only have 1 determinant for each character

A

gametes

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15
Q

Mendel’s theory: each determinant – into gametes

A

segregates equally

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16
Q

Mendel’s theory: union of 2 gametes occurs – with regard to genetic determinants

A

randomly

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17
Q

since egg and sperm were believed to contribute equally to offspring, – probably contained genetic material

A

chromosomes

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18
Q

eukaryotic cells contained – which contained chromosomes

A

nuclei

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19
Q

haploid

A

only one set of chromosomes, one copy of each gene

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20
Q

all chromosomes come in pairs (except sex chromosomes)

A

diploid organisms

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21
Q

diploid organisms - each homolog has the same number and order of genes though may have different –

A

alleles

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22
Q

impossible to tell – from chromosome pairs

A

genome size

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23
Q

each chromatid is

A

one DNA molecule

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24
Q

an organized profile of an organism’s chromosome

A

karyotype

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25
Q

chromosomes are made up of

A

DNA and protein (chromatin)

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26
Q

DNA is packaged into –

A

nucleosomes

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27
Q

chromatin in M phase is –

A

always condensed

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28
Q

heterochromatin

A

condensed state of interphase chromatin

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29
Q

heterochromatin is rich in repeated sequences, transposable elements, and –

A

centromeric DNA

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30
Q

chromosomes duplicate during

A

S phase

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31
Q

chromosomes segregate during

A

M phase

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32
Q

replicated chromosomes remain connected at –

A

centromere

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33
Q

each chromosomes is – before replication

A

one DNA molecule

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34
Q

spindle fibers attach to protein complexes called – that assemble on the centromere

A

kinetochores

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35
Q

centromeres can vary in position

A

metacentric/acrocentric

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36
Q

nuclear division associated with somatic cell division

A

mitosis

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37
Q

mitotic cell division results in

A

2 identical daughter cells

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38
Q

c = concentration of DNA relative to gamete or –

A

of chromatids per chromosome pair

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39
Q

n = # of –

A

chromosomes in gamete

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40
Q

describes how DNA is segregated into gametes

A

meiosis

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41
Q

reductional division

A

meiosis I

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42
Q

meiosis I

A

homologous chromosomes separate

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43
Q

equational division

A

meiosis II

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44
Q

meiosis II – separate

A

sister chromatids

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45
Q

gametes have – alleles

A

one

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46
Q

law of segregation (1st law)

A

two alleles of a gene separate during gamete formation and end up in different gametes

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47
Q

changes in DNA sequence

A

mutants

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48
Q

in humans, presence of – determines maleness

A

Y chromosomes (SRY gene)

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49
Q

– is the default sex

A

female

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50
Q

SRY transcription factor activates gene responsible for –

A

testis development

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51
Q

genes on sex chromosomes – involved in sex functions

A

are not necessarily

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52
Q

disease related on X chromosome is much more likely to be seen in

A

males

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53
Q

X-linked dominant traits would be observed more in males or females?

A

females

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54
Q

T/F: Y chromosome evolved from X chromosome

A

true

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55
Q

genes are named after

A

first mutant allele

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56
Q

a

A

recessive allele

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57
Q

a+

A

wild type allele dominant to mutant

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58
Q

A

A

dominant allele

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59
Q

A+

A

wild type allele recessive to mutant

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60
Q

1902: Sutton and Boveri :Chromosome Theory of Inheritance

A

genes are located on chromosomes

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61
Q

points against chromosome theory of inheritance :chromosomes disappear in –

A

interphase (break apart?)

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62
Q

points against chromosome theory of inheritance: cytologically difficult to prove homologs pair in meiosis

A

could be random pairing

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63
Q

points against chromosome theory of inheritance: if genes are linked on chromosomes assortment of genes should –

A

not be independent

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64
Q

in flies, sex is determined by –

A

of X chromosomes

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65
Q

phenotype is expressed only in one sex

A

sex-limited trait

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66
Q

in sex limited traits, – possess genes, but only expressed in one sex

A

both sexes

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67
Q

sex determines whether an allele is dominant or recessive

A

sex influenced trait

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68
Q

sex influenced trait may affect the extent of –

A

expression

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69
Q

pattern baldness is an example of

A

sex influenced trait

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70
Q

humans: one of the X’s is – early in development in females

A

inactivated

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71
Q

human females randomly inactivates one of the X’s are –

A

mosaics

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72
Q

down syndrome correlates with nondisjunction in mother

A

meiosis I (50% no crossing over)

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73
Q

meiosis arrested in – for decades

A

prophase I

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74
Q

1st law: for each gene, a gamete will end up with either allele from -

A

the mother of the allele from the father

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75
Q

always assume wild type is

A

homozygous

76
Q

proof of the chromosomes theory of inheritance came from what research

A

study of sex-linked genes in Drosophila

77
Q

Why do we have 1:1:1:1: phenotypic ratio in the F2?

A

because F1 females are heterozygous and because the F1 males behave like a tester strain

78
Q

in flies sex is determined by –

A

number of X chromosomes

79
Q

T/F: most traits are affected by more than one gene and cannot be analyzed using simple Mendelian genetics

A

true

80
Q

recessive traits appear in progeny of –

A

unaffected individuals

81
Q

recessive traits frequently show up in – matings (cousins)

A

consanguineous

82
Q

for recessive traits: – from two affected individuals are affected

A

all progeny

83
Q

probability of independent event occurring together is the – of the probabilities of the individual events

A

product

84
Q

probability of either of two mutually exclusively event occurring is the – of their individual probabilities

A

sum

85
Q

affected individuals appear in every generation

A

dominant traits

86
Q

for dominant traits: two affected parents may have –

A

unaffected progeny

87
Q

mendelian ratios apply to – genes (3:1 or 1:1)

A

autosomal

88
Q

sex-linked genes obey Mendel’s laws but do not –

A

give Mendelian ratios

89
Q

each dihybrid plant produces 4 gamete types –

A

with equal frequency

90
Q

Mendel’s Second Law

A

segregation of alleles of two different genes are independent of one another

91
Q

law of independent assortment is explained by genes being located on –

A

different chromosomes

92
Q

In the first division of meiosis, alleles are segregated

A

Mendel’s first law

93
Q

the first division of meiosis also segregates chromosomes independently

A

Mendel’s second law

94
Q

one gene (two phenotypes)

A

3: 1 F2 phenotypic ratio
1: 1 test cross phenotypic ratio

95
Q

two genes (four phenotypes)

A

9: 3:3:1 F2 phenotypic ratio
1: 1:1:1 test cross phenotypic ratio

96
Q

null hypothesis

A

A and B are unlinked expect a 9:3:3:1 F2 phenotypic ratio or 1:1:1:1 test cross phenotypic ratio

97
Q

degrees of freedom =

A

of independently variable classes

98
Q

if p

A

reject null (reject independent assortment with differences by chance alone)

99
Q

single trait determined by multiple genes

A

polygenic inheritance

100
Q

hardening of the arteries

A

athersclerosis

101
Q

both mitochondria and chloroplast contain – though they rely on nuclear genes as well

A

small circular chromosomes

102
Q

each cell contains many copies of the organelle, and each organelle contains many copies of the –

A

chromosome

103
Q

cytoplasmic organelles are inherited through the –

A

mother

104
Q

– during prophase I leads to crossover gametes

A

chiasma

105
Q

crossing over: homologous recombination that is catalyzed by a set of –

A

enzymes

106
Q

1% recombination =

A

1 map unit

107
Q

frequency of recombination is proportional to the genetic – (based on the assumption that recombination is random)

A

distance

108
Q

examine linkage of autosomal genes? for simplification, instead of crossing F1 progeny (where recombination could occur in either parent), F1 females are crossed to –

A

tester male

109
Q

recombination frequency often differs between

A

males and females

110
Q

drosophila is an extreme where there is no recombination in –

A

males

111
Q

we can never measure more than – between two genes even if they are further away than –

A

50 mu

112
Q

genes on different chromosomes also give – mu

A

50

113
Q

two genes located on different chromosomes give – recombinants

A

50%

114
Q

if genes are on the – some meiosis will have no recombination between genes

A

same chromosome

115
Q

if all meiosis have one or two recombination events between A and B, then the map distance will equal to 50 and A and B are considered –

A

unlinked

116
Q

genes located far away on same chromosome will have 50% recombinant gametes and appear

A

unlinked

117
Q

if some meiosis do not have a recombination between A and B, then there will be more parentals than recombinants and A and B are said to be

A

linked

118
Q

each gene has a place or – on its chromosome

A

locus

119
Q

mutation – a gene and locus

A

marks

120
Q

genes or segregating allele are called

A

markers

121
Q

2 genes are linked

A

on the same chromosome

122
Q

– linkage group per chromosome pair

A

one

123
Q

groups of linked genes are known as –

A

linkage groups

124
Q

when similar alleles are on the same chromosome

A

cis

125
Q

when alleles are on different chromosomes

A

trans

126
Q

w+y+/wy

A

cis

127
Q

w+y/wy+

A

trans

128
Q

when markers are relatively far apart, the observed distance is usually – than the sum of distances due to double crossovers

A

less

129
Q

wild type alleles usually encode the – functional protein

A

normal

130
Q

mutant allele changes either –, splicing, or amino acid sequence of protein

A

expression

131
Q

T/F: phenylketonuria is one of the most common genetic abnormalities in US

A

true

132
Q

if one copy of the gene is sufficient for normal function, then most non-functional alleles are –

A

recessive

133
Q

if one copy is not sufficient for normal function, the wild-type is said to be – and the mutant allele is dominant

A

haploinsufficient

134
Q

mutant allele is recessive

A

haplosufficient

135
Q

mutant allele is dominant

A

haploinsufficient

136
Q

ABO blood types exhibit

A

co-dominance and complete dominance

137
Q

I gene encodes enzyme that adds – to membrane proteins

A

sugars

138
Q

i allele is

A

nonfunctional (no sugar)

139
Q

F1 hybrids show the traits intermediate between two parents

A

incomplete dominance

140
Q

phenotype usually reflects genotype

A

incomplete dominance

141
Q

F1 hybrids show the traits of both parents

A

co-dominace

142
Q

everything is – when you get down to the level of DNA (when you make both mutant and wild-type)

A

co-dominant

143
Q

any allele found – frequency in the wild is considered “wild type” other alleles are “mutant”

A

> 1% (all bloods types are considered wild type)

144
Q

3:1 or 1:2:1 ratio

A

1 gene with different alleles

145
Q

2:1 ratio is usually

A

lethal allele

146
Q

condition in which a single gene has more than one effect on an individual

A

pleiotropic effect

147
Q

recessive - lethality (YY)

dominant - coat color (Yy) and sickle cell and malaria

A

pleiotrophic effect

148
Q

in – organisms, mutations in essential genes are lethal

A

haploid

149
Q

lethal under some conditions but can survive under other conditions

A

conditional mutants

150
Q

most traits are the result of –

A

many biochemical step

151
Q

production of wild-type phenotype when two recessive mutant alleles are brought together in the same cell

A

complementation analysis

152
Q

different gene =

A

complement

153
Q

two different alleles of same gene

A

do not complement

154
Q

complementation of 2 genes with no intermediate phenotypes

A

9:7 ratio

155
Q

”–” means they are in the – complementation group

A

same

156
Q

gene that acts first is – (stands over) to the second gene

A

epistatic

157
Q

mutations that reverse the effect of an original mutation resulting in wild-type phenotypes

A

suppressors

158
Q

suppressors usually from – a mutant

A

mutagenizing

159
Q

different ratios are observed if suppressor has mutant phenotype by itself; can be observed if the two proteins interact to form a –

A

complex

160
Q

interacting proteins (suppressor)

A

10:6

161
Q

biochemical pathway (suppressor)

A

13:3

162
Q

two mutations have a stronger effect when combined

A

synthetic lethality (9:6 ratio)

163
Q

15:1 ratio (everything is wild type except for double mutant)

A

duplicated genes

164
Q

mutations which either increase or decrease the expression of a gene

A

modifiers

165
Q

modifiers are frequently found in – proteins

A

regulatory

166
Q

distinguish between multiple alleles and multiples genes by ratios of –

A

F2 phenotypes

167
Q

1:1, 1:2:1 3:1

A

single gene, (might have) multiple alleles

168
Q

1:1:1:1, 9:3:3:1 (or variation)

A

two genes, two alleles

169
Q

need one good copy of each gene for expression of final phenotype

A

complementation (9:7)

170
Q

recessive epistasis

A

9:3:4

171
Q

dominant epistasis

A

12:3:1

172
Q

– has unique life cycle which makes complementation analysis simple and distinct from recombination

A

neurospora (bread mold)

173
Q

yeast have – haploid or diploid states

A

stable

174
Q

2 cells combine: cytoplasm becomes one but their nuclei stay separate

A

heterokaryon

175
Q

heterokaryon can’t have recombination but can have –

A

complementation

176
Q

– immediately undergo meiosis

A

transient diploid

177
Q

separate during anaphase II of meiosis

A

sister chromatids

178
Q

contain identical nucleotide sequences prior to crossing over

A

sister chromatids

179
Q

separate during anaphase of mitosis

A

sister chromatids

180
Q

in a pair, one is of maternal origin, the other of paternal origin

A

homologous chromosomes

181
Q

crossover between them contributes to genetic diversity

A

homologous chromosomes (nonsister chromatids)

182
Q

separate during anaphase I of meiosis

A

homologous chromosomes

183
Q

They all have some mutation in the same wing-development gene.
Each strain may have a –, but the same gene is mutated in all strains in a complementation group.

A

different mutation

184
Q

To construct a mapping cross of linked genes, it is important that the genotypes of – of the gametes produced by the heterozygote can be deduced by examining the phenotypes of the progeny, taking into consideration that the homozygote produced only recessive gametes.

A

all

185
Q

T/F: Gametes and their genotypes can never be observed directly

A

true