Pre Midterm Notes Flashcards

1
Q

what is it called when you cut just one strand of DNA?

A

a nick

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2
Q

how does DNA become super coiled

A

single strand nick
multiple 360 rotation
ligation

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3
Q

what is it called when you seal the nick?

A

ligation

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4
Q

how much bigger is a eukaryote than a prokaryote?

A

10x

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5
Q

what is supercoiling?

A

a double helix (as of DNA) that has undergone additional twisting in the same direction as or in the opposite direction from the turns in the original heli

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6
Q

how large is the human nucleus?

A

5-10 micrometers

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7
Q

what is a eukaryotic chromosome composed of?

A
  • one large linear molecule of DNA
  • 5 histones (positive charged)
  • divergent group of non-histone proteins
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8
Q

DNA + histone + protein =

A

chromatin

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9
Q

how many levels of DNA packaging are in chromatin

A

3:

  1. nucleosome
  2. 30 nm chromatin fiber
  3. inter-phase chromosome
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10
Q

level 1 : nucleosomes

A
  • 146 nucleotide pairs of DnA wrapped as 1 3/4 turns around an octamer histone
  • linker DNA carry in length from 8-114 nucleotide pair
  • width: 11 nm
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11
Q

Nucleosome core

A

-consist of 2 molecules of each of the 4 histones 2(H2a + H2b + H3 + H4)

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12
Q

what does H1 do

A
  • comes in and seals the 1 3/4 turn
  • just one
  • becomes complete nucleosome once H1 is involved
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13
Q

level 2: 30 nm chromatin fibre

A
  • have chromatin DNA and protein
  • least elegant step
  • compact everything into a fibre that ends up being 30 nm wide
  • linear
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14
Q

level 3: inter-phase chromosome

A
  • divergent non-histone proteins
  • fibre forms loops (less space)
  • 300 nm wide
  • tethered to scaffold
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15
Q

what is inter-phase chromosome?

A

how your DNA in your cells look when they’re not dividing

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16
Q

what is simplest level of DNA?

A

double stranded helical structure

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17
Q

what does interphase chromosome wrap around to become metaphase chromosome?

A

chromosome scaffold

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18
Q

what is another level of packaging that a chromosome undergoes during mitosis?

A

the metaphase chromosome

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19
Q

what kind of DNA does each eukaryotic chromosome contain?

A

nucleosomes

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20
Q

what is a nucleosome?

A

1 giant molecule of DNA packaged into 11 nm ellipsoidal beads

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21
Q

what is a gene?

A

a genetic factor that helps determine a characteristic

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22
Q

what is an allele?

A

One of two or more alternative forms of a gene

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23
Q

how is genetic info carried?

A

DNA

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24
Q

where are genes located?

A

chromosomes

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25
Q

what is the flow of genetic info transfer?

A

DNA to RNA to protein

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26
Q

what is a locus?

A

Specific place on a chromosome occupied by an allele

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27
Q

what is a genotype?

A

Set of alleles possessed by an individual organism

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28
Q

what is a heterozygote?

A

An individual organism possessing two different alleles at a locus

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29
Q

what is a homozygote

A

An individual organism possessing two of the same alleles at a locus

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30
Q

what is a phenotype?

A

The appearance or manifestation of a character

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31
Q

what did Gregor Johann Mendel discover?

A

the basic principles of heredity

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32
Q

what is the phenotypic ratio in the F2 generation of a monohybrid cross?

A

3:1

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33
Q

what is the phenotypic ratio in the F2 generation of a dihybrid crop?

A

9:3:3:1

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34
Q

what do we assume if the trait is rare and autosomal recessive?

A

individuals who marry into the pedigree are not carriers: homozygous for the normal allele

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35
Q

what are the 2 types of recessive mutations?

A

null/amorphic alleles

hylomorphic alleles

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36
Q

what is a Null/Amorphic allele?

A

a nonfunctional protein is produced
or
no protein is produced

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37
Q

what is a hylomorphic allele?

A

a poorly functioning protein is produced
or
reducing amounts of a normally function protein is produced

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38
Q

when do you use the multiplication rule?

A

when the word AND is used

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39
Q

when do you use the addition rule?

A

when the word OR is used

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40
Q

what often involves a loss of gene function?

A

recessive mutations

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41
Q

what are the 2 types of dominant mutations?

A

dominant hypermorphic alleles
or
neomorphic alleles

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42
Q

what often involves gain/change of gene function?

A

dominant mutations

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43
Q

what is a dominant hypermorphic alleles?

A
  • Negative phenotypic consequences due to the over-production of a normal protein
    OR
  • Negative phenotypic consequences due to the production of a protein with increased activity levels
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44
Q

what is a neomorphic allele?

A
  • Negative phenotypic consequences due to the presence of an altered protein that has a new function
  • Negative phenotypic consequences when the altered protein interferes with the wildtype protein (Dominant-negative allele
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45
Q

why for traits that are rare and dominant, affected individuals are most likely to be heterozygous (Bb)?

A

If the trait is rare in the population, then matings between Bb individuals would be infrequet

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46
Q

what is incomplete dominance?

A

Bb is intermediate between homozygous phenotype

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47
Q

what is codominance?

A

Bb exhibits phenotypes of both homozygote

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48
Q

true or false:

Multiple Alleles Often Exist for a Gene at a Particular Locus

A

true

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49
Q

what does the IA allele in blood encode?

A

a transferase which adds acetylgalactosamine

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50
Q

what does the IB allele in blood encode?

A

a transferase which adds galactose

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51
Q

what does the i allele in blood encode?

A

a non-functional transferase

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52
Q

what does the IAIB blood type encode?

A

acetylgalactosamine and galactose

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53
Q

what is a wild type allele?

A

a functional enzyme or other protein is produced (most common found in a natural population)

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54
Q

what is a loss of function allele?

A

an enzyme or other protein is no longer being produced, is produced at lower levels, or is nonfunctional

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55
Q

what is haplosufficiency?

A

Half as much protein is synthesized yet this is often sufficient to achieve the wildtype phenotype

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56
Q

what’s an example of a gain of function dominant allele?

A

Huntington’s disease

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57
Q

what is haploinsufficent?

A

in the heterozygote, half as much protein is synthesized and this is not sufficient for a normal phenotype

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58
Q

when do you get a severe mutant phenotype?

A

recessive amorphic loss-of-function allele does not produce a functional polypeptide
OR
dominant-negative allele produces a polypeptide that interferes with the wild-type polypeptide

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59
Q

when do you get a mild mutant phenotype?

A

recessive hylomorphic loss-of-function allele produces a partially functional polypeptide

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60
Q

what is penetrance?

A

The proportion of individual organisms having a particular genotype that express the expected phenotype
-variation in the population

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61
Q

what is expressivity?

A

The degree to which a phenotype is expressed (mild to severe);
variation in the individual

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62
Q

what is polydactyly an example of?

A

incomplete penetrance

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63
Q

what are some examples of variable expressivity?

A

split hand-foot syndrome
piebaldism
Huntington’s disease

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64
Q

what causes incomplete penetrance and expressivity?

A

due to the effects of other genes and to environmental factors that can alter or completely suppress the effect of a particular gene

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65
Q

what are the 4 environmental factors that can affect phenotypic expression?

A
  1. age
  2. sex
  3. temperature
  4. chemicals
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66
Q

what is the norm of reaction?

A

The range of phenotypes expressed by a single genotype under different environmental conditions

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67
Q

what is a phenocopy?

A

change in phenotype arising from environmental factors that mimic the effects of a mutation in a gene

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68
Q

what is Mendel’s law of independent assortment?

A

The inheritance pattern of one trait will not affect the inheritance pattern of another trait

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69
Q

when will complementation occur?

A

when two strains of an organism with different homozygous recessive mutations that produce the same phenotype, produce offspring of the wild-type phenotype when mated or crossed

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70
Q

true or false:

complementation can occur if the mutations are in the same gene

A

false:

only if they’re in different genes

71
Q

what is a heterogeneous trait?

A

a mutation in any one of a number of genes can give rise to the same phenotype

72
Q

what is epistasis?

A

The masking of the expression of one gene by another.

No new phenotypes are produced

73
Q

what is the F2 phenotypic ratio of the recessive epistasis?

A

9:3:4

74
Q

what is the F2 phenotypic ratio of the dominant epistasis?

A

12:3:1

75
Q

what is the F2 phenotypic ratio of the recessive lethal allele?

A

2:1

76
Q

what is the F2 phenotypic ratio of the incomplete dominance or codominance?

A

1:2:1

77
Q

what is the F2 phenotypic ratio of complementation?

A

9:7

78
Q

what is pleiotropy?

A

when A single gene can be responsible for a number of distinct and seemingly unrelated phenotypic effects

79
Q

what is heterosis?

A

when 2 different inbred lines are crossed

80
Q

what does inbreeding do?

A

increases the frequency of homozygotes and decreases the frequency of heterozygotes

81
Q

what is the Hardy Weinberg principle?

A

predicting genotypes through allele frequencies in a population

82
Q

what is the Hardy Weinberg equation?

A

p^2 + 2pq + q^2

83
Q

what needs to be absent for the Hardy Weinberg Principle t be correct?

A

evolutionary influences:

  1. Nonrandom mating
  2. Unequal survival
  3. Population subdivision
  4. Migration
84
Q

what is the expected frequency of heterozygotes in a population with allelic frequency x and y that is in Hardy–Weinberg equilibrium?

a. x+ y
b. xy
c. 2xy
d. (x-y)2

A

c. 2xy

85
Q

what is dosage compensation?

A

a way of equalizing gene expression in the face of different gene dosa

86
Q

what are the only 2 chromosomes that pair even though they’re not homologous?

A

the X and Y

87
Q

where are X and Y chromosomes homologous?

A

only at pseudoautosomal regions

88
Q

what is a Barr body?

A

inactive X chromosome

89
Q

how many active X chromosomes can a person have?

A

1

90
Q

what are genetic mosaics?

A

females that are heterozygous for X-linked traits

91
Q

what is polyploid?

A

more than 2 sets of chromosomes

92
Q

how much of the plant kingdom is polyploidy?

A

30-35% of flowering plants

93
Q

true or false:

polyploidy is rare in the animal kingdom

A

true

94
Q

describe autopolyploids

A
  • the chromosome sets are all identical

- All chromosomes are derived from the same species

95
Q

what d autopolyploid plants usually have?

A

–More vegetative growth (larger cells, thicker leaves, bigger flowers, larger plants, bigger fruits)
–Less seed production

96
Q

why are many polyploids sterile?

A

due to problems with pairing and separation of homologous chromosomes in meiosis

97
Q

what are allopolyploids?

A

polyploids that are the result of the crosses between 2 or more species

98
Q

describe polyploidy in animals

A
  • interspecies crosses can result in a sterile animal

- Chromosome doubling which potentially could restore fertility is not well tolerated

99
Q

what is aneuploidy?

A

Diploid genome which lacks a chromosome or has an extra chromosome

100
Q

what can cause aneuploidy?

A

Meiotic nondisjunction

101
Q

what are the only 3 autosomal trisomies seen as live births in humans?

A
  • trisomy 21 (Down syndrome)
  • trisomy 13 (Patau syndrome)
  • trisomy 18 (Edwards syndrome)
102
Q

what are the aneuploid conditions involving sex chromosomes?

A
  • X0 Turner Syndrome
  • XXY Klinefelter Syndrome
  • XXX Triple X Syndrome
  • XYY Double Y male
103
Q

what is another word for bivalent?

A

homologous pair

104
Q

a diploid organism has 2n = 36 chromosomes. How many chromosomes will be found in a trisomic member of this species?

A

2n + 1 = 36 + 1 = 37

105
Q

what is the cause of Down’s syndrome?

A

96% meiotic non-disjunction

4% Robertsonian translocation of the chromosome 21 long arm onto the long arm of chromosome 14

106
Q

Why Is There A Correlation Between The Incidence Of Trisomies And Maternal Age?

A

Bivalents with crossovers near the ends of the chromosomes are fragile and are increasingly unstable over time

107
Q

in humans, where do germ cells remain until ovulation?

A

arrested prophase 1

108
Q

what sorts of chemicals can cause nondisjunction?

A
colchicine
Bisphenol A (BPA)
109
Q

what is deletion?

A

a missing chromosome segment

110
Q

what is duplication?

A

an extra chromosome segment

111
Q

what is paracentric inversion?

A

not including the centromere in the inversion

112
Q

what is pericentric inversion?

A

including the centromere in the inversion

113
Q

when does translocation occur?

A

when a segment from one chromosome is detached and reattached to a different (nonhomologous) chromosome

114
Q

what is reciprocal translocations?

A

pieces of two nonhomologous chromosomes are exchanged without any net loss of genetic material

115
Q

how are compound chromosomes formed?

A

by the fusion of homologous chromosomes, sister chromatids, or homologous chromosome segments

116
Q

how are Robertsonian translocations formed?

A

by the fusion of two nonhomologous chromosomes at their centromeres

117
Q

true or false:

genes that are of the same chromosome travel through meiosis together

A

true

118
Q

what did TH Morgan discover?

A
  • Genes are “linked” if present on the same chromosome

- The divergence from linkage is called recombination

119
Q

what did AH Sturtevant discover?

A

The frequency of recombination reflects distance between genes

120
Q

map units =

A

recombinants / total x 100

121
Q

if genes are linked, what do you see in F1?

A

two major classes of offspring with equal frequencies with two minor classes of offspring that are the result of recombinant gametes in the dihybrid parent

122
Q

when does homologous recombination occur?

A

prophase 1 of meiosis

123
Q

what is a chiasma?

A
  • the physical junction between the homologous chromatid

- site where recombination occur

124
Q

true or false:

multiple crossovers can be simultaneously taking place over the same tetrad

A

true

125
Q

when does crossing over occur?

A

prophase of meiosis 1

126
Q

true or false:
the closer genes are to each other on the chromosome, the likelier they are to crossover together, decreasing the likelihood of a recombinant gamete

A

true

127
Q

what are the 3 possible scenarios for dihybrid cross AaBb X AaBb

A
  1. Genes A and B are independently assorting (4 classes of offspring with a 9:3:3:1 ratio)
  2. Genes A and B are tightly linked so that crossing over does not happen (2 classes of offspring with a 3:1 ratio)
  3. Genes A and B are linked and crossing-over occurs (variations in the 3:1 ratio)
128
Q

what is recombination caused by?

A

by a physical exchange between paired homologous chromosomes early in prophase of the first meiotic division after chromosomes have duplicated

129
Q

true or false:
At any one point along a chromosome, the process of exchange (crossing over) involves only two of the four chromatids in a meiotic tetrad

A

true

130
Q

when do crossovers become visible as chiasmata?

A

late in prophase 1

131
Q

how can linkage between human genes be detected?

A

by analyzing pedigrees

132
Q

true or false:

pedigree analyses can have a limited success in complex genetic traits

A

true

133
Q

what are the mechanisms of genetic exchange in bacteria?

A

conjugation
transformation
transduction

134
Q

what makes bacteria a valuable research object?

A
  • Small size
  • Rapid reproduction
  • Selective media (e.g., antibiotics) that can easily identify the presence of an active allele
  • Simple structures and physiology
  • Genetic variability
135
Q

how do bacteriophages reproduce?

A

by infecting bacterial cells

136
Q

what do bacteriophages produce on plates with dense bacterial cultures?

A

plaques

137
Q

describe bacteriophage T4

A
  • Protein head
  • Genome contains 168,800 base pairs and 150 characterized genes
  • This is a fairly large and complex genome
  • The phage goes through a lytic phase
138
Q

describe bacteriophage lambda

A
  • Genome contains, 48,502 base pairs and about 50 genes

- May be lytic or lysogenic

139
Q

Conjugation between an F+ and F− cell usually results in which of the following?

a. Two F+ cells
b. Two F− cells
c. An F+ and an F− cell
d. An Hfr and an F+ cel

A

a. Two F+ cells

140
Q

what is the bacterial genome?

A

circular molecules of several million base pairs, called bacterial chromosome

141
Q

where does additional genetic material reside?

A

in plasmids (small circular DNA) that can replicate independently of the bacterial chromosome

142
Q

what is an episome?

A

large circular DNA that can integrate into the bacterial chromosome for replication or remain separate

143
Q

true or false:

bacteria have meiosis

A

false

144
Q

true or false:

gene transfer in bacteria is unidirectional

A

true:

from donor cell to recipient cell

145
Q

how can gene mutations in bacteria be observed?

A
  • Colony colour and morphology
  • Nutritional mutants (can not metabolise certain sugars, like lactose or galactose)
  • Prototrophs and auxotrophs (can not make certain amino acids, these need to be added to the growth medium)
  • Antibiotic resistance
146
Q

define transformation

A

transfer of a free (out of the cell) piece of DNA from one bacterium into another

147
Q

define conjugation

A

direct transfer of DNA from one cell to another via the establishment of a cytoplasmic bridge

148
Q

define transduction

A

transfer of genes from one cell to another via bacteriophage (vector)

149
Q

which parasexual process in bacteria requires cell contact?

A

conjugation

150
Q

which parasexual process in bacteria is sensitive to DNase?

A

transformation

151
Q

true or false:

Transformation can be used to determine the distance between bacterial gene

A

true

152
Q

what is transformation measured as?

A

a change in phenotype that occurs with a certain frequency

153
Q

what is the sexual reproduction in conjugation mediated by?

A

the Fertility or F factor

154
Q

how does an F-factor exist?

A

as an extra-chromosomal DNA
OR
it can insert into the bacterial chromosome and replicate as part of it

155
Q

true or false:

in general plasmids are not required for the survival of the host cell

A

true:

they serve as auxiliary genetic elements

156
Q

what are the functions of the genetic material?

A

must replicate, control the growth and development of the organism, and allow the organism to adapt to changes in the environment

157
Q

where is genetic info of most living things stored?

A

in DNA

158
Q

where is genetic info present in some viruses?

A

RNA

159
Q

how are nucleotides joined?

A

phosphodiester bonds

160
Q

true or false:

%A=%C

A

false:
%A=%T
%C=%G

161
Q

true or false:

A+G=T+C

A

true

162
Q

which are the 2 purines?

A

A and G

163
Q

which are the 2 pyrimidines

A

T and C

164
Q

what did Erwin Chargaff determine?

A

the precise base composition of different types of DNA

165
Q

what did William Astbury discover?

A

X-ray diffraction Analysis showed that DNA is a polymer of stacked bases

166
Q

what did Rosalind Franklin & Maurice Wilkins discover?

A

DNA is a helix

167
Q

what are the assumptions of the Watson and Crick model?

A
  • DNA is a double helix
  • The two strands were anti-parallel
  • The sugars form a phosphate backbone
  • The bases are held together by H bonds
168
Q

true or false:

DNA has antiparallel strands

A

true

169
Q

true or false:

The two strands of the helix have opposite chemical polarity (5’ and 3’ ends)

A

true

170
Q

true or false:

the U-tube experiment concluded that genetic exchange requires direct contact between bacterial cells

A

true

171
Q

true or false:

the rate of cotransformation is proportional to the distance between genes

A

false:

inversely proportional

172
Q

what is the transforming substance in the Avery–MacLeod–McCartyexperiment?

A

DNA

173
Q

what is the genetic material of TMV?

A

RNA