Reproduction & Inheritance Flashcards

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1
Q

Where is circular DNA found

A

Nucleoid of prokaryotes & mitochondria in eukaryotes

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2
Q

The mendelian definition of a gene

A

Unit of inheritance for a specific trait

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3
Q

Mandelian definition of an allele

A

A variant of a gene that codes for a specific form of the trait

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4
Q

Mendelian definition of genotype

A

Collection of alleles in question for an individual

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5
Q

Mendelian definition of phenotype

A

Observable traits of an individual

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6
Q

Mendelian definition of dominant allele

A

The allele expressed as a phenotype if present

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7
Q

Mendelian definition of recessive allele

A

The allele expressed are a phenotype if only it is present

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8
Q

What is the p generation? (Mandelian genetics)

A

Parental generation

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9
Q

What is the f1 generation? (Mandelian genetics)

A

First filial generation, offspring

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10
Q

What is the f2 generation? (Mandelian genetics)

A

Second filial generation, off spring of f1

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11
Q

What is a homozygote?

A

Individual with 2 identical alleles

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12
Q

What is a Hetrozygote ?

A

Individual with 2 different alleles

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13
Q

What is a monohybrid punnet square?

A

Punnet square where only one trait is considered

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14
Q

What is a dihybrid punnet square?

A

Punnet squat with 2 traits

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15
Q

Mendel’s first law

A

Law of dominance: some alleles are dominant & others are recessive, if 2 homozygotes with different alleles breed then the offspring will all be heterozygotes with the phenotype of the dominant allele

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16
Q

Mendel’s second law

A

Law of segregation: during gamete formation the alleles of each gene separate into separate gametes

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17
Q

Mendel’s third law

A

Law of independent assortment: alleles are past on separately of each other,

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18
Q

What is codominance? (Mendelian genetics)

A

Both alleles of a heterozygote are fully expressed thus traits are neither dominant nor passive

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19
Q

What is incomplete dominance? (Mendelian genetics)

A

When the heterozygous phenotype is distinct from the 2 possible homozygous phenotypes, ex colors of flowers mix into a new color

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20
Q

What do circle, squares, lines, blank & shaded in a pedigree diagram?

A

Circle: female
Square: male
Line: breeding
Blank: condition is not expressed
Shaded: condition is expressed

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21
Q

How many out of 46 are sex chromosomes?

A

2

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22
Q

Male chromosomes

A

Xy

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23
Q

Female chromosomes

A

Xx

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24
Q

What is autosomal dominant? (Pedigrees)

A

Allele is dominant & not x-linked

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25
Q

What are the 44 non sex chromosomes called?

A

Autosomal chromosomes

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26
Q

What is autosomal recessive? (Pedigrees)

A

Allele is recessive & not x- linked

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27
Q

What is x- linked dominant? (Pedigrees)

A

Allele is dominant & x-linked

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28
Q

What is x- linked recessive? (Pedigrees)

A

Allele is recessive & x-linked

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29
Q

What are histones?

A

Proteins that wrap DNA

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30
Q

What are nucleosome?

A

DNA wrapped twice around a core of 8 histones

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31
Q

What is a 30-300 nm fibre

A

A fibre formed from nucleosomes

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32
Q

What does chromosomal theory of inheritance state?

A

Chromosomes are the vehicles of genetic heredity

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33
Q

What are alleles carried on?

A

Chromosomes

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34
Q

How are genes linked?

A

By being carried on the same chromesome

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35
Q

What does it mean that genes are unlinked?

A

Genes are found on different chromosomes

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36
Q

When is independant important?

A

When genes are not linked

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37
Q

What is genetic recombination?

A

Random crossing over that occurs during meiosis & the Mendelian genetics dash hold

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38
Q

What makes separating genes during crossing over less likely?

A

The closer the genes are together

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39
Q

What arecell junctions?

A

Points of contact between cells

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40
Q

What are the 4 types of cell contact? & where are they found?

A

Tight junction: water tight seal connecting 2 cells where nothing can pass through, intestines, bladder & other places where you don’t want leaking
Desmosomes: connect Via cytoskeleton & hold 2 cells together, strongest type, things can flow between, stress resisting, skin, intestines, cardiac muscles
Gap junction: tunnel between cells allowing fluid to flow between & through, found in cells that spread action potentials, cordial cells, neurons
Plasmodesmata: only in plant cells, allows cytosol to flow between cells

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41
Q

What is the extracellular matrix / ECM & what is it responsible for?

A

Area outside cell responsible for coordination of cells & formation of tissue

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42
Q

What does the ECM play a role in?

A

Holding cells together (to form tissue), cell communication & cell migration

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43
Q

What are the 3 stages in cell signaling?

A

1 reception of signalling molecule
2 transduction, signal received will se converted into a new signal
3 cellular response

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44
Q

What are the two types of receptors in cells?

A

Internal & external

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45
Q

What is a different name for the signalling molecule?

A

Ligand

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46
Q

For an internal receptor to receive the ligand what does it have to be? & what type ligands are they?

A

Small or hydrophobic so it can enter the cell . Steroid hormones, thyroid hormone or nitricoxide

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47
Q

What ar the 2 types of internal receptors?

A

Nuclear receptor & cytosolic receptor

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48
Q

Different name for external receptors

A

Membrane receptors

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49
Q

What kind of ligands reacts with membrane receptors?

A

Hydrophilic receptors / ligands which can’t cross the membrane like epinephrine

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50
Q

What is the membrane receptor called?

A

Gpcr, g- protein couple receptor

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51
Q

Definition of gpcr

A

Transmembrane protein receptor that span the membrane 7 times

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52
Q

How many types of nucleotides are there?

A

4

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53
Q

What are the 2 invariable components of nucleotide?

A

Five carbon sugar & phosphate (sugar phosphate backbone)

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54
Q

What is the variable part of nucleotides? & how many different ones are there?

A

Nitrogenous base,4

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55
Q

The different types of nitrogenous bases

A

Adenine ( purine, 2 rings), guanine (purine), thymine ( pyramidine, 1 ring ) & cytosine (pyramidine)

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56
Q

What is the b-n-glycosidic bond in a nucleotide?

A

The bond between the sugar & the nitrogenous group

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57
Q

What is the phospho-ester bond in a nucleotide?

A

Bond between the the phosphate & the sugar

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58
Q

What is the phosphodiester bond?

A

Bond between the sugar, phosphate & new sugar modecuce, bridge

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59
Q

Which Carbons have the phosphoDiester bonds?

A

The 3’ & 5’

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60
Q

What kind of bonding is DNA

A

Antiparallel

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61
Q

How many & what kind of bonds are between the different kind of nucleotides?

A

Guanine & cytosine: 3 hydrogen bonds
Adenine & thymine: 2 hydrogen bonds

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62
Q

What is a nucleoside

A

Sugar & nitrogenous base (without the phosphate)

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63
Q

How many different ways of genetic replication are there? & what are they called

A

3: semiconservative model, Conservative model, dispersive model

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64
Q

What kind of model is DNA replicated after?

A

The semiconservative model

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65
Q

What enzyme is used during initiation of replication in DNA? & what does it do?

A

Helicase, breaks off hydrogen bonds between nucleotides & creates replication bubble

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66
Q

What unwinds the helix during DNA replication?

A

Topoisonerase

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67
Q

What does RNA have instead of thymine?

A

Uracil

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68
Q

Why do Okazaki fragments occur?

A

Because DNA can only be formed going 5’ → 3’ as there can only be added to the 3’ end

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69
Q

What fixes the nicks & okazaki fragments?

A

DNA ligaze

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70
Q

What is it called when DNA goes to RNA?

A

Transcription

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71
Q

What are 3 base pairs of RNA called?

A

A codon

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72
Q

How many different possible codons on there?

A

64

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73
Q

What is the strand without Okazaki fragments called?

A

Leading strand

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74
Q

What is the stand with Okazaki fragments called?

A

The lagging string

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75
Q

What is the purpose of genetic material?

A

Creating rotting

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76
Q

What will you have after transcription?

A

Single stranded mRNA

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77
Q

What is the difference between the coding strand & mRNA?

A

Thymine is replaced b uracil

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78
Q

What direction is mRNA translated?

A

5’ →3’

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79
Q

What direction will the protein sequence /peptide be made in?

A

N’ →c’

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80
Q

What binds to the mRNA during translation?

A

Ribosomes which tRNA binds to

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81
Q

How do you know which is the template strand & which is the coding strand of DNA?

A

Template goes 3’ →5’ & cooding goes 5’ →3’

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82
Q

What is a wobble position?

A

The 3rd position on mRNA, not as important as the fist two positions

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83
Q

What decides which amino acid is formed?

A

The fist 2 positions of a nucleotide, ex: tac t &a decide

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84
Q

Where is the mRNA released into?

A

The cytoplasm

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85
Q

What can correct error not caught by the replication machinery when it comes to DNA?

A

Mismatch repair

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86
Q

What protects mRNA from being degraded by our exonucleases in the cytoplasm?

A

The 5’ end which has 3 phosphates connected to 2 5’

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87
Q

How is mRNA terminated?

A

Rho protein goes up to RNA polymerase where it cleaves the mRNA & makes the 3’ end poly a (polyadenalation)

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88
Q

What is attached to t 3’ mRNA to prevent exonuclease activity?

A

Polyaderalation to which 100-200 adenine bases an connected

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89
Q

What happens during mRNA splicing & what performs it?

A

It is performed by splicesomes, introns are made into loops & cut away, connecting the exons

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90
Q

What is an important part of gene expression?

A

Splicing

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91
Q

When do transcription & translation happen in prokaryotes & why in that order?

A

The happy simultaneously due to there being no nucleus

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92
Q

What is the starting codon in mRNA? & what enzyme does it code for?

A

Aug, methionine

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93
Q

Where do the enzymes bind in prokaryotes mRNA before it starts translation?

A

The shive delgarno sequence

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94
Q

Where does binding of enzymes occur in eukaryotes when mRNA is to be translated?

A

The 5’ cap

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95
Q

Are all the Aug codons the start codon for eukaryotes?

A

No, only the one that is part of the Kozak consensus sequence

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96
Q

What are the 2 units of ribosomes?

A

The small ribosomal subunit & the large ribosomal sub unit

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97
Q

What does the small ribosomal subunit do?

A

Attaches to the 5’ cap & starts scanning until it finds the Aug start codon

98
Q

How does smooth er become rough er?

A

When the ribosomes which are translating the mRNA bind to it due to the signal recognition particle attached to the ribosomes

99
Q

What does smooth er produce?

A

Lipids

100
Q

What does rough er produce?

A

Proteins

101
Q

What are the 3 processes that creates the central dogma of biology & makes DNA → RNA → protein?

A

DNA replication → transcription → translation

102
Q

Where does DNA replication occur?

A

Where there is DNA, nucleus & mitochondrial matrix & chloroplast stroma of plant cells

103
Q

What direction do all DNA processes occur in?

A

5’ → 3’

104
Q

During what phase does DNA replication occur?

A

S-phase

105
Q

Where in the cell does transcription occur?

A

Where there is DNA, nucleus & mitochondrial matrix & chloroplast stroma of plant cells

106
Q

What produces mRNA?

A

RNA polymerase ll

107
Q

What is rRNA & what is it used for?

A

Ribosomal RNA. RNA used with ribosomal proteins to form ribosomes

108
Q

What produces rRNA?

A

RNA polymerase l

109
Q

What is tRNA & what is it used for?

A

Transfer RNA which is used to ferry amino acids to the ribosome during translation

110
Q

What produces tRNA?

A

RNA polymerase lll

111
Q

Where does pre-mrna processing take place?

A

Only nucleus

112
Q

What are introns & exons?

A

Regions of mRNA

113
Q

What is expressed, introns or exons?

A

Exons

114
Q

What is the poly A tail?

A

Multiple adenines added to 3’ end

115
Q

What is mRNA converted into during translation?

A

Polypeptide

116
Q

What happens to polypeptides after translation?

A

They are modified into proteins

117
Q

Where does translation take place?

A

Cytosol, mitochondrial matrix & chloroplast stroma

118
Q

What are the 3 sites in the large ribosomal subunit called?

A

E,p, A

119
Q

What is the significance of Aug & what amino acid does it code for?

A

Start codon, codes for methionine

120
Q

What does anti codons bind to?

A

mRNA

121
Q

What bonds are formed during transcription?

A

Covalent bonds & phosphodiester bonds

122
Q

Where do the activities of the central dogma take place in prokaryotes?

A

The cytosol

123
Q

What part of the central dogma is cut out of the process in prokayotes?

A

The modification of the mRNA does not take place as it is being translated simultaneously (they a coupled)

124
Q

When does dna replication occur in prokaryotes?

A

The first step during binary fission

125
Q

Where is replication slower, eukaryotes or prokaryotes?

A

Eukaryotes

126
Q

How many origins of replication are there in eukaryotes and prokaryotes?

A

Multiple origins in eukaryotes & single origin in prokaryote

127
Q

How many types of RNA polymerase are there in eukaryotes vs prokaryotes?

A

3&1

128
Q

Does mRNA in prokaryotes have introns?

A

No

129
Q

How many proteins can mRNA code for in eukaryotes vs prokaryotes?

A

One ( the mRNA is monocistronic) & many (the mRNA is polycistronic )

130
Q

What kinds of ribosomes do eukaryotic & prokaryotic cells have?

A

80s/ 70s & only 70s

131
Q

How should you think about mitochondria & chloroplast?

A

As a prokaryote

132
Q

What kind of structure is the nucleoid of a prokaryote?

A

Circular, dose strands single chromosome

133
Q

How does the nucleoid of a prokaryote look?

A

It is supercoiled

134
Q

How is DNA organized in eukaryotes?

A

Decondensed

135
Q

Main difference between eukaryotic & prokaryotic chromosomes

A

There are many in eukaryotes where there is only a single double stranded in prokaryotes

136
Q

What is pleiotropy?

A

When one gene affects multiple charactaristres

137
Q

What are recessive lethal alleles?

A

Alleles which can be lethal (when homozygous)

138
Q

What and dominant lethal alleles?

A

Alleles that cause death even when only one copy is present

139
Q

What is polygenic traits/inheritance

A

When many alleles contribute to the same trait such as height

140
Q

Which kind of cell has on average more genes & chromosomes?

A

Eukaryotes

141
Q

What is the most common kind of gene regulation?

A

Transcription initiation

142
Q

What is the preferred source of nutrient for prokaryotes & what can it be substituted with?

A

Glucose is preferred, can be subbed w/ lactose

143
Q

What are operons? (Prokaryotes)

A

Genetic regulatory systems

144
Q

What are the 3 components of the DNA sequence of an operon? (prokaryotes)

A

Promoter, operator and genes which each code for a protein

145
Q

What controls gene regulation in bacteria?

A

Bacteria is a prokaryote thus operons controls gene regulation

146
Q

What are constitutive genes?

A

Always expressed, vital for function

147
Q

What are facultative genes?

A

Genes expressed based on environment

148
Q

What does it mean that an operon is inducible? ( prokaryotic gene regulation)

A

Off by default but It can be turned on by the precense of a particular small molecule

149
Q

What does it mean that an operon is repressible? ( prokaryotic gene regulation)

A

It is on by default but can be turned off by a small molecule

150
Q

What does gene regulation allow for? ( prokaryotic gene regulation)

A

It allows for bacteria/the cell to respond to changes in environment by altering gene expression

151
Q

When does e. coli express the lac operon? What 2 conditions

A

Lactose is available & glucose is not

152
Q

What senses the precense of lactose in the lac operon?

A

The lac repressor

153
Q

What senses the precense of glucose in the lac operon?

A

The catobolite activator protein (cap)

154
Q

Why is the metabolism of glucose preferred to that of lactose?

A

It takes less energy

155
Q

What makes cell different? (They all contain the same “building blocks”

A

Gene regulation

156
Q

What are transcription factors?( gene regulation)

A

Protein that help turn a specific gene on or off by binding to DNA

157
Q

What are other types of gene regulation aside from transcription initiation? (eukaryotes)

A

Alternative splicing, targeting by MicroRNA, protein activity regulation through removal of amino acids or addition of chemical groups

158
Q

Dominant autosomal linked inheritance / diseases

A

Free earlobes, achondroplasia → dwarfism, early balding (m), curly hair, progeria → premature aging, dactyly → digits, huntington

159
Q

Recessive autosomal linked inheritance / diseases

A

Albinoism, attached earlobes, cystic fibrosis, sickle cell disease, tay-sachs disease

160
Q

What are autosomal linked diseases?

A

Genetic diseases relating to one of the 22 non sex chromosomes

161
Q

What ar x- linked diseases?

A

Genetic diseases linked to the x- chromosome

162
Q

What is ploidy / non disjunction and where does it occur?

A

Addition or loss of chromosomes due to uneven split of chromosomes in meiosis I

163
Q

When does misdivision happen & what is it?

A

Meiosis ll, uneven split between chromosomes

164
Q

Is it possible to have a child with no x-chromosome

A

No, if the egg is fertalized & there only is a Y chromosome it is not viable

165
Q

What syndrome is caused when a female child only has 1 X chromosome?

A

Turner syndrome

166
Q

What syndrome occurs when a baby is born with xxy chromosomes?

A

Kleinfelter syndrome

167
Q

What syndrome occurs when a baby is born with XXX chromosomes?

A

Triple x syndrome, the female is normal

168
Q

What does pcr mean?

A

Polymerase chain reaction

169
Q

What is the product of PCR?

A

Multiplication of the target DNA

170
Q

What are DNA vectors? ( gene cloning Via bacteria)

A

DNA molecules that act as vehicles to allow genes & other DNA sequences of interest to be stored, manipulated o introduced into other organisms

171
Q

What is the most common type of vector? (Gene cloning )

A

Bacterial plasmid

172
Q

What at the 4 types of vectors?

A

Plasmids - most commonly used
Viral vectors
cosmids
Artificial chromosomes

173
Q

What is reverse transscription?

A

RNA → DNA

174
Q

What is the machinery associated with HIV?

A

Contains Reverse transcriptase enzyme used to make complementary DNA from its RNA genome

175
Q

How does DNA cloning work?

A

DNA fragment is inserted into a circular DNA molecule called a plasmid. The plasmid is replicated in bacteria calling many copies of the gene in interest

176
Q

Definition of DNA cloning

A

Identical copies of piece of DNA

177
Q

How are genes to be cloned cut out?

A

Using restriction enzymes

178
Q

What is used to connect the DNA to the plasmid in DNA cloning?

A

DNA Ligase ( type of enzyme)

179
Q

What is used to make the bacteria take up plasmid when DNA cloning?

A

Typically a heat shock, a shock to the system is needed

180
Q

What is placed in the plasmid along with the DNA of interest to make it clear which bacteria has obtained the plasmid? (DNA cloning )

A

Gene for antibiotics resistance is put in the plasmid so when the bacteria is put in nutrients a antibiotics only the bacteria with the plasmid survives

181
Q

What is the process called in which bacteria can take up foreign DNA?

A

Transformation

182
Q

What is the first step in pcr?

A

Separating the DNA strands. Process is called denaturation & uses heat to break up the hydrogen bonds a separate the strands (96 c )

183
Q

What is the polymerase used in pcr called & why that one?

A

Taq polymerase, needs to be heat resistant as the “cool” part of the process is 55c

184
Q

What is gel electrophoresis used to?

A

Measure length of DNA

185
Q

What is a palindromic sequence?

A

Sequence of DNA that is the same on top & bottom, Google picture

186
Q

How do restriction enzymes work?

A

The recognise palindromic sequences & cuts it leaving “sticky ends”, google pictures
They open up the circular DNA

187
Q

What is used to connect the DNA strands in DNA cloning? (hint : it is an enzyme)

A

Ligase

188
Q

How many copies of DNA do you get when replicating DNA during pcr?

A

2 for each cycle so total number =2^n where n is number of cycles

189
Q

What is needed for pcr?

A

Target DNA, taq polymerase, DNA nucleotides & primers

190
Q

What is Southern blotting?

A

DNA separated in gel electrophoresis

191
Q

What is northern blotting?

A

RNA separated in gel electrophoresis

192
Q

Would you look at DNA or RNA if you want to study gene expression?

A

RNA

193
Q

During what phase do organelles (aside from nucleus) duplicate?

A

Interphase, G1

194
Q

How many percent of the cell cycle does mitosis make up?

A

10%

195
Q

How many percent of the cell cycle does interphase make up?

A

90%

196
Q

What does the frequency of mitosis depend on

A

Cell type

197
Q

Do all cells undergo mitosis?

A

No

198
Q

Example of cells that don’t undergo mitosis & what is their phase called?

A

Red blood cells, G0

199
Q

What is cytokinesis?

A

Duplication of the cytoplasm

200
Q

What are the only type of cells that undertake meiosis?

A

Gamete forming cells (spermatocytes & primary oocytes )

201
Q

What do you get at the end of meiosis?

A

4 haploid sperm & egg cells, all different

202
Q

What is karyotype?

A

The complete set of chromosomes in a species cell

203
Q

How are karyotypes ordered?

A

In homologous pairs, by size & centromere location

204
Q

Benefits of ordering karyotypes

A

Allows for analysing chromosomes & identify abnormalities

205
Q

Visible difference between X & y chromosome?

A

Size, x is bigger

206
Q

How do you obtain the karyotype? ( 4 steps)

A

Sample: blood, amniotic fluid, tissue etc, just need cells
Metaphase arrest: cell cycl halted at metaphase
Chromosome staining & analysis
Karyotype interpretation

207
Q

What does chromosome numbers denote?

A

The pair, so chromosome 4 is the 4th pair

208
Q

How do you denote a healthy diploid karyotype for a female?

A

46,xx

209
Q

How do you denote a healthy diploid karyotype for a male?

A

46,xy

210
Q

How do you denote karyotype for a female with trisomy?

A

47, xx +number of effected chromosome

211
Q

How do you denote karyotype for a male with trisomy?

A

47, Xy+ number of the effected chromosome

212
Q

Which chromosome is there an extra copy of in downs syndrome?

A

21

213
Q

Example of trisomy

A

Downs syndrome

214
Q

How do you denote karyotype for a female with monosomy?

A

45,xx-number of effected chromosome

215
Q

How do you denote karyotype for a male with monosomy?

A

45, xy- * number of effected chromosome*

216
Q

What does the haploid number (n) denote?

A

Number of distinct chromosome pairs

217
Q

What is the haploid number for humans?

A

23

218
Q

What is ploidy?

A

Number of sets of chromosomes, humans have 2 sets as chromosomes are paired together

219
Q

Which cells are haploid?

A

Gametes

220
Q

Which cells are diploid?

A

Somatic cells

221
Q

What does it mean that a cell is anucleate? Example

A

No chromosomes, erythrocytes

222
Q

What is polyploidy?

A

When the organism has more than 2 complete sets of chromosomes

223
Q

Where is polyploidy normal & common?

A

Certain species, common in plants

224
Q

What is aneuploidy?

A

Abnormal number of chromosomes, not every pair is effected (example, trisomy)

225
Q

What is nullisomy?

A

When an entire chromosome pair is missing

226
Q

Is aneuploidy ever normal?

A

No

227
Q

Where are operons found?

A

Prokaryotes

228
Q

Mnemonic to remember components of an operon

A

Prog
Promoter
Repressor
Operator
Genes

229
Q

What does the lac operon regulate?

A

Ability to consume lactose

230
Q

What do lactose / allolactose do to the repressor of a lac operon & what are they called?

A

Removes the repressor, it’s called an inducer

231
Q

How many genes are in the lac operon and what do they do?

A

3, they produce proteins that help the prokaryote consume lactose

232
Q

What does the trp open regulate?

A

The ability to produce tryptophan

233
Q

What is tryptophan & who needs it? Where can you get it from

A

Amino acid, us & bacteria
Diet if possible otherwise made it using trp operon

234
Q

How many genes in the trp operon?

A

5

235
Q

What happens to the trp operon if tryptophan is available?

A

Tryptophan binds to oppressor & oppressor binds to operator & stops production

236
Q

What is the corepressor of Trp operon?

A

Tryptophan

237
Q

What is myosin?

A

The thick filament of the sacomere

238
Q

What is the structure of actin?

A
239
Q

Does one cell division in mitosis lead to an immediate increase or decrease in mass?

A

Decrease

240
Q

What bonds are between RNA primer & its Okazaki fragments?

A

Covalent bonds

241
Q

How are mitochondrial genes transmitted to offspring?

A

Maternally (from mom )