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Higher Biology > DNA & the Genome > Flashcards

DNA & the Genome Flashcards

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1
Q

What does the DNA helix consist of?

A

Pairs of bases and a sugar phosphate backbone

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2
Q

Why is the double helix shape important?

A

It allows DNA to be copied

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3
Q

DNA is a what stranded molecule?

A

Double stranded molecule

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4
Q

What are the repeating units of DNA called?

A

Nucleotides

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5
Q

What do nucleotides consist of?

A

Phosphate
Base
Deoxyribose sugar

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6
Q

What element does deoxyribose sugar contain?

A

It contains 5 carbon atoms

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7
Q

What are the four different bases called?

A

Adenine
Thymine
Cytosine
Guanine

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8
Q

What is the base pair rule?

A

Adenine to thymine

Cytosine to guanine

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9
Q

What bonds connect the bases pairs?

A

Weak hydrogen bonds

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10
Q

What bonds connect the nucleotides together?

A

Strong Chemical bonds

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11
Q

DNA is made up of what strands?

What does this mean?

A

Anti- parallel

It means the run in opposite directions from each other

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12
Q

What are the two prime ends?

A

5’ prime

3’ prime

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13
Q

What are prokaryotes?

A

Organisms which lack a true membrane-bound nucleus

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14
Q

What are eukaryotes?

A

Are organisms which have a membrane bond nucleus which stores their genetic material.

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15
Q

What organisms are considered prokaryotes?

A

Bacterial cells

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16
Q

What organisms are eukaryotes?

A

Animal, plant and fungal cells

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17
Q

Where is the DNA found in a prokaryote?

A

DNA is found in the cytoplasm as a large circular chromosome.

They also have smaller rings of DNA called plasmids

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18
Q

Where is the DNA found in a eukaryote?

A

DNA is found tightly coiled into linear chromosomes in the nucleus.

Small circles of DNA can also be found in the mitochondria and chloroplasts.

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19
Q

What do some yeast cells contain?

A

Plasmids

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20
Q

How do chromosomes fit in the nucleus?

A

It is coiled up in proteins called histones

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21
Q

What does DNA replication rely on?

A

It relies on complementary base pairings

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22
Q

Why does DNA rely on complementary base pairs?

A

If a strand of DNA is to be copied, it can act as a template.

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23
Q

DNA replication is a what controlled process?

A

Enzyme controlled process

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24
Q

What two enzymes does DNA replication rely on?

A

DNA polymerase and DNA ligase

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25
Q

What do DNA polymerase do?

A

They catalyse the formation of the bond between the sugar of the nucleotide and the phosphate of the next.

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26
Q

What do DNA ligase do?

A

Joins fragments of DNA together

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27
Q

What prime end can the DNA polymerase add to?

A

3’ end

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28
Q

What can DNA polymerase not do?

A

The cannot start adding nucleotides on its own.

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29
Q

What are primers?

A

Primers are short sections of nucleotides which add to the DNA and the enzyme extends from them

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30
Q

In DNA replication what else is required to make a new strand of dna?

A

Free nucleotides

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31
Q

How is the leading strand copied?

A

Leading strand is made continuously

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32
Q

How is the lagging strand copied?

A

Lagging strand is made in fragments which are then joined together

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33
Q

Step one of DNA replication on the leading strand is?

A

DNA unwinds

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34
Q

Step two of DNA replication on the leading strand is?

A

Hydrogen bonds break and the DNA “unzips”

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35
Q

Step three of DNA replication on the leading strand is?

A

A primer binds to the dna

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36
Q

Step four of DNA replication on the leading strand is?

A

DNA polymerase adds to nucleotides to the 3’ end of the primer

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37
Q

Step five of dna replication on the leading strand is?

A

DNA polymerase catalyses the formation of a chemical bond between nucleotides

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38
Q

Step six of dna replication on the leading strand is?

A

DNA polymerase adds nucleotides to the 3’ end of the growing strand

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39
Q

Step seven of dna replication on the leading strand is?

A

This process is repeated until the entire molecule is replicated.

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40
Q

Why does the lagging strand have to be made in fragments?

A

Due to the leading strand being made continuously because the DNA polymerase constantly add to the 3’ end.

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41
Q

Step one of dna replication on the lagging strand is?

A

A primer binds to the dna once it is exposed

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42
Q

Step two of dna replication on the lagging strand is?

A

DNA polymerase adds nucleotides to the 3’ end of the primer

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43
Q

Step three of dna replication on the lagging strand is?

A

DNA polymerase adds nucleotides to the 3’ end of the growing strand

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44
Q

Step four of dna replication on the lagging strand?

A

DNA polymerase adds nucleotides to the 3’ end of the growing fragment.

A new primer is added to exposed dna.

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45
Q

Step five of dna replication on the lagging strand is?

A

DNA polymerase adds nucleotides to the 3’ end of the primer.

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46
Q

Step six of dna replication on the lagging strand?

A

DNA polymerase catalyses the formation of a chemical bond between nucleotides.

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47
Q

Step seven of dna replication on the lagging strand is?

A

DNA polymerase adds nucleotides to the 3’ end of the growing fragment until it reaches the previous one.

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48
Q

Step eight of dna replication on the lagging strand is?

A

The primer is replaced by dna.

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49
Q

Step nine of dna replication on the lagging strand is?

A

DNA ligase joins the fragments together.

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50
Q

Step ten of dna replication on lagging strand is?

A

As the DNA unzips more, another fragment will be made and connected to the previous one.

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51
Q

What direction does the DNA polymerase add the nucleotides on the lagging strand?

A

3’ end to 5’ end direction

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52
Q

What direction does the DNA polymerase add the nucleotides on the leading strand?

A

3’ to 5’ end

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53
Q

How is dna replicates quickly?

A

To replicate dna quickly they may be many replication forks along the length of the dna.

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54
Q

What is the region of replication called?

A

Replication bubble

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55
Q

What is PCR?

A

Polymerase chain reaction is a method of amplifying a target sequence of DNA.

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56
Q

When is PCR used?

A

In forensics and diagnosis of disease

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57
Q

PCR involves three steps which result in what?

A

Exponential increase in the target sequence of dna

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58
Q

What else can PCR be used for?

A

Analyse extremely small amounts of sample dna.

or analysis of ancient DNA that is tens of thousands of years old

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59
Q

What does PCR permit?

A

Early diagnosis of malignant diseases.

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60
Q

What can PCR be able to diagnose?

A

The presence of aids virus

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61
Q

What is needed for PCR?

A 
Template dna 
Buffer 
DNA (Taq) polymerase 
Nucleotides 
Primers
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62
Q

What happens to the section of dna which is being amplified in PCR?

Why?

A

The section of dna must be added to the reaction mixture.

This will act as a template copy.

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63
Q

What does the buffer in PCR do?

A

The buffer keeps the reaction mixture at the correct ph

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64
Q

What is the optimum temperature for polymerase enzyme?

A

Optimum temperature for polymerase enzymes are 37 c

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65
Q

What does PCR require polymerase to do?

Why?

A

Operate at high temperatures.

This means heat-tolerant DNA polymerase must be used

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66
Q

What are Taq Polymerase?

A

An enzyme which adds nucleotides to DNA.

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67
Q

Taq Polymerase are a what type of polymerase?

A

A special type of polymerase which is stable at high temperatures.

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68
Q

What is the optimum temperature for Taq polymerase?

A

Optimum temperature of 70 c

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69
Q

What is a primer?

A

A primer is a strand of DNA which serves as a starting point for polymerase.

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70
Q

How are DNA primers designed in the PCR process?

A

Designed to be complementary to the sequence to amplify a specific are of dna

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71
Q

Step 1 of PCR is?

A

The DNA molecule which is being amplified is first denatured.

It is heated to between 92 and 98 c

This breaks the hydrogen bonds between base pairs.

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72
Q

Step 2 of PCR is?

A

The solution is cooled to between 50 and 65 c to allow the primer to anneal to the single strands of DNA

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73
Q

Step 3 of PCR is?

A

The solution is heated to between 70 and 80 c to allow extension from the primer.

This process is usually repeated at least 30 times.

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74
Q

Step 4 of PCR is?

A

DNA duplex is heat-denatured

Two primers are annealed to the sequence once the solution is cooled

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75
Q

Step 5 for PCR is?

A

Heat-tolerant DNA polymerase then attaches to the primer and copies the templates, doubling the number of copies

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76
Q

Polymerase chain reaction allows DNA to be amplified in what?

A

Vitro

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77
Q

In vitro means what?

A

Out with a living organism

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78
Q

What does in vivid mean?

A

Carried out within an organism like dna replication

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79
Q

Once the DNA has been amplified using PCR what can be used next?

A

Electrophoresis

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80
Q

What is gel electrophoresis?

A

Gel electrophoresis separates macromolecules based on their size and electrical charge.

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81
Q

In gel electrophoresis what happens to the DNA fragments?

A

The dna fragments are stained then loaded into a gel.

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82
Q

Once the dna fragments have been loaded into a gel what happens next?

A

An electric current can be passed through the gel

The dna starts to move through the gel.

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83
Q

In gel electrophoresis why does the dna move towards the positive electrodes?

A

Dna moves towards the positive electrodes because it is negatively charged.

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84
Q

What do proteins contain?

A

Carbon
Hydrogen
Oxygen
Nitrogen

Sometimes sulphur

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85
Q

What do proteins consist of?

A

Chains of amino acids

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86
Q

What are amino acids linked by?

A

Peptide binds to form polypeptides

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87
Q

What can a polypeptide consist of?

A

Hundreds of amino acids linked together

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88
Q

How is the order of amino acids in a protein determined?

A

By the order of bases on the dna strand

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89
Q

What do polypeptide chains fold into to form?

A

Three dimensional shape of a protein

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90
Q

The three dimensional shape of a protein is held together by what bond?

A

Hydrogen bonds and other interactions between individual amino acids

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91
Q

A different structure of a protein causes for?

A

A different function

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92
Q

What is the function of an enzyme?

A

Speeds up the chemical reactions but remain unchanged by the process.

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93
Q

Why are enzymes important?

A

Vitally important to allow chemical reactions to take place at lower temperatures

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94
Q

What is the function of an antibody?

A

They are involved in the body’s immune system, attach onto invading pathogens and signal them for destruction.

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95
Q

What is the function hormones?

A

Chemical messengers which send messages from one part of the body to another.

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96
Q

What is the function of a structural protein?

A

Have a role in support can be found as an important component of the cell membrane as well as a major component of hair, nails and skin

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97
Q

What is RNA?

A

RNA is similar to DNA but has a few key differences

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98
Q

What do RNA nucleotides contain?

A

A ribose sugar
Phosphate
Base

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99
Q

RNA uses what as a partner for adenine?

A

Uracil

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100
Q

RNA is a what strand molecule?

A

Single strand molecule

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101
Q

What are the three types of RNA?

A

Messenger RNA (mRNA)

Transfer RNA (tRNA)

Ribosomal RNA (rRNA)

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102
Q

What does mRNA do?

A

Carries a copy of the code from the DNA in the nucleus to the ribosome in the cytoplasm

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103
Q

How is mRNA made?

A

mRNA is made using code contained in the DNA by a process called transcription

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104
Q

What is tRNA?

A

Carries specific amino acids to the ribosome where they can be linked together in the correct order using the code on the mRNA

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105
Q

What is the process tRNA is involved in called?

A

Translation

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106
Q

What is the ribosome?

A

The site of protein synthesis

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107
Q

What is the ribosome made from?

A

Protein and ribosomal RNA forming a complex

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108
Q

What is Transcription?

A

The first step in protein synthesis

It is when the genetic code on the DNA is used to determine the base sequence on the mRNA

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109
Q

Step one of Transcription is?

A

The dna containing the gene to be transcribed is identified

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110
Q

Step two of Transcription is?

A

RNA polymerase unwinds the DNA and breakdown the hydrogen bonds between the bases causing the strands to separate and expose their bases.

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111
Q

Step three of Transcription is?

A

Free RNA nucleotides find and align with their complementary nucleotide in the open chain by hydrogen bonds

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112
Q

step four of Transcription is?

A

A strong chemical bond forms between the sugar of one RNA nucleotide and the phosphate of the next. Using RNA polymerase.

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113
Q

Step five of Transcription is?

A

This process continues along the length of the gene.

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114
Q

Step six of Transcription is?

A

The weak hydrogen bonds between the DNA and RNA bases break allowing the mRNA to separate from the DNA.

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115
Q

Step 7 of Transcription is?

A

The mRNA moves away from the DNA.

The weak hydrogen bonds between the two dna strands reunite and the molecule winds up into a double helix again.

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116
Q

What are the two different segments of genes?

A

Introns And Exons

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117
Q

What are introns?

A

Introns are non-coding regions of the gene which are removed from the primary mRNA transcript.

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118
Q

What are Exons?

A

Exons are coding regions which are joined together to form a mature mRNA in a process called splicing.

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119
Q

What happens to Exons during splicing?

A

The order of Exons is unchanged during splicing

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120
Q

What does nature mRNA only contain?

A

Exons only

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121
Q

What happens to mature mRNA during transcription?

A

Mature mRNA then moves through pores in the nuclear membrane and carries a copy of the DNA code to the ribosome

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122
Q

What is tRNA’s function in translation?

A

TRNA only exposes one of its triplets this known as the anticodon

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123
Q

What does tRNA also have?

A

An amino acid binding site.

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124
Q

What are groups of three bases on mRNA called?

A

Groups of three bases on MRNA are known as codons.

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125
Q

What are the three exposed bases on tRNA?

A

Anticodons

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126
Q

Groups of three bases code for what?

A

Code for one amino acid

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127
Q

What will every protein in translation start with?

A

Methionine amino acid AUG

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128
Q

What are stop codons?

A

Codons which signal the end of an amino acid.

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129
Q

During translation what are the codons on the mRNA used to determine?

A

Determine sequence of amino acids in the protein.

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130
Q

tRNA molecules have what?

A

Complementary sequences called anticodons

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131
Q

tRNA anticodons bases pairs with mRNA why?

A

tRNA anticodons base pair with mRNA codons temporarily to determine the order of amino acids in the protein

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132
Q

Step 1 for translation is?

A

Each anticodon corresponds to a specific amino acid.

tRNA molecule picks up the appropriate amino acid and aligns it with its corresponding codon on the mRNA at a ribosome.

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133
Q

Step two of translation is?

A

Peptide bonds from between adjacent amino acids

tRNA molecules continue to align their anticodons to the complementary codons on the mRNA.

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134
Q

Step three of translation is?

A

Chain of polypeptide (protein) is released into the cytoplasm

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135
Q

What do polypeptide bonds do?

A

Link amino acids together as the polypeptide chain forms.

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136
Q

What happens to the polypeptide chain when completed?

A

When completed the polypeptide chain is released from the ribosome.

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137
Q

What happens when the polypeptide chain is released from the ribosome?

A

It folds and binds to other polypeptide chains, results in the formation of a mature protein

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138
Q

How many times does can tRNA be used?

A

A tRNA molecule can be used many times to carry its specific amino acid molecule.

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139
Q

The mRNA molecule in translation is usually what?

A

Re-used to produce more identical polypeptide chains.

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140
Q

What is a codon?

A

A codon is a triplet of bases found on mRNA

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141
Q

What is an anticodon?

A

An anticodon is a triplet of bases found on tRNA

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142
Q

What is each anticodon specific to?

A

Each anticodon is specific to one amino acid

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143
Q

What do tRNA molecules help determine?

A

The order of amino acids in the protein which is being produced.

144
Q

What can one gene do?

A

Give rise to many different types of protein

145
Q

What are the two main processes that allow the production of many proteins from one gene?

A

Alternative splicing

Post- translational modification

146
Q

What is splicing?

A

Splicing is the process which joins Exons together to for a mature mRNA.

147
Q

What is alternative splicing?

A

During alternative splicing different sections of the mRNA transcript are treated as Exons and introns.

148
Q

What happens during alternative splicing?

A

Many different mature mRNA transcripts are produced from the same primary mRNA transcript.

Therefore may different proteins can be made.

149
Q

What happens after translation?

A

The polypeptide chain folds to form its final shape and gives its function.

150
Q

What else can happen after translation?

A

Post-translational modifications may also occur to the polypeptide chain.

151
Q

What is post translational modification?

A

Changes which take place to the polypeptide chain after translation has taken place.

152
Q

Post translation modification includes what?

A

Cleavage

Molecular addition

153
Q

What is cleavage?

A

Removal of part of a polypeptide chain

154
Q

What is molecular addition?

A

Adding components to protein

155
Q

What happens in some cases of polypeptide chains?

A

Sometimes some polypeptide chains may need to be cleaved before the protein will be fully functional.

156
Q

What is an example of a polypeptide chain being cleaved?

A

Trypsinogen

Trypsin is an enzyme made from trypsinogen which breaks down proteins

157
Q

How is trypsinogen produced?

A

Produced by transcription and translation of the trypsin gene.

158
Q

Trypsinogen is a what if trypsin?

A

Inactive form

159
Q

How does trypsinogen become active?

A

It becomes active trypsin after cleavage if parts of its polypeptide chain

160
Q

What are some examples of molecular addition?

A

Carbohydrates or phosphate groups

161
Q

What is Mucin?

What does it have?

A

Mucin is a glycoproteins found in mucus

This protein has a carbohydrate added

162
Q

When will Mucin be fully functional?

A

Mucin is fully functional when carbohydrate has been added

163
Q

What is another example of molecular addition?

A

Addition of phosphate

164
Q

What does the enzyme glycogen phosphorylase produce?

A

Glucose from glycogen

165
Q

How do you turn glycogen phosphorylase active?

A

It becomes active by the addition of a phosphate

166
Q

What is differentiation?

A

Differentiation is a process by which unspecialised cells become specialised for a specific function

167
Q

What happens to a zygote in terms of differentiation?

A

Zygote undergoes differentiation which results in groups of cells that have become specialised to preform different functions.

168
Q

What happens during differentiation?

A

Many essential genes remain switched on

Some genes for specific characteristics are turned on

Some unnecessary genes are switched off

169
Q

What are some differentiation cells?

A 
Muscle cells 
Heart cells 
Fat cells 
Blood cells
Nervous cells
170
Q

In animals growth can what?

A

Occur all over their bodies

171
Q

In plants growth is what?

A

Restricted to regions called meristems.

172
Q

Where can meristems be found?

A

Can be found at the tip of the shoot in plants surrounded by young leaves

173
Q

Where else can meristems be found?

A

Near the end of the roots

174
Q

Near the root of a plant how are meristems protected?

A

They are protected by a group of cells called the root cap

175
Q

What takes place in the meristem?

What does it produce?

A

Cell division

Non specialised cells

176
Q

What do non specialised cells in plants have the potential to do?

A

Become any type of plant cell

177
Q

What does cell division at the meristem allow?

A

Allows plants to grow

178
Q

What happens to the cells produced at the meristem?

A

They can differentiate into all the different types of cells found in a plant

179
Q

What are stem cells and where are the found?

What can they do?

A

Stem cells are unspecialised cells and are found in animals.

They can become any type of body cell

180
Q

What are some examples of cells stem cells can become?

A

Skins cells
Muscle cells
Blood cells

181
Q

What can stem cells continue to do?

A

To divide or can differentiate into specialised cells of more or more type.

182
Q

What are the two main types of stem cells?

A

Embryonic stem cells

Adult stem cells

183
Q

Where are embryonic stem cells found?

A

Stem cells are found in embryos

184
Q

Where are adult stem cells found?

A

Found throughout the body

Can be found in children as well as adults

185
Q

What happens in the very early embryo?

A

Embryonic stem cells differentiate into all the cell types that make up the organism.

186
Q

What happens to tissue stem cells (adult stem cells)?

A

Tissue stem cells replenish differentiated cells that need to be replaced and give rise to a more limited range of cell types

187
Q

An example of an adult stem cell is?

A

Hematopoietic stem cells

188
Q

What does stem cell research provide?

A

Information on how cell processes such as cell growth, differentiation and gene regulation work.

189
Q

What type of stem cells are being sued in stem cell research right now?

A

Mice or human stem cells

190
Q

Adult stem cells that are used in medicine?

A

Bone marrow

Skin

Heart muscle

Bladder

191
Q

What is the use of bone marrow stem cells?

A

Can develop into all the types of cell found in blood and can be used to treat leukaemia a cancer caused by abnormal blood cells.

192
Q

Use of skin cells are?

A

Growing a new layer of skin which can be used to treat burn victims.

193
Q

What is the use of heart muscles cells?

A

Repairing damaged heart muscle after a heart attack

194
Q

Use of bladder stem cells are?

A

Building a new bladder in lab for a patient whose bladder has been damaged by injury or disease.

195
Q

What is believed of stem cells?

A

Stem cells could be directed to differentiate into any type of cell and replace damaged or diseased ones.

196
Q

What do stem cells have the potential to cure?

A

Potential to cure Parkinson’s disease, Alzheimer’s disease, MS or cardiac disease

197
Q

What are the ethical issues surrounding stem cell research and medicine?

A

The distraction of embryos

The development of techniques which are similar to cloning

198
Q

What are the laws that keep stem cell research tightly regulated?

A

Human fertilisation and embryology act and human reproductive cloning act.

199
Q

Why are stem cell regulations put in place?

A

To ensure that all practices involving stem cells are ethical

200
Q

What is a genome?

A

A genome of an organism is its entire hereditary information encoded in its DNA

201
Q

How is the entire hereditary information organised in humans?

A

It is organised into 46 chromosomes

202
Q

What is genome made up of?

A

A genome is made up of genes which carry instructions for making all the proteins and other DNA sequences that do not code for proteins.

203
Q

What does a genome contain?

A

Coding and non-coding sequences

204
Q

What do most eukaryotic genomes consist of?

A

Non coding sequences

205
Q

What are the several functions of non-coding sequences in genomes?

A

Regulations transcription
Transcription of RNA
No known function

206
Q

What are the non-coding sections of dna which are use to regulate transcription do?

A

They can bind proteins which promote or prevent transcription of a gene

207
Q

What do some sections of DNA do?

A

Get transcribed into RNA but not translated

208
Q

What are the three types of RNA that are not translated into proteins?

A

tRNA

rRNA

Non-translated forms of RNA

209
Q

What are RNA fragments?

A

rNA fragments are small sections that are not translated which are involved in splicing and other processes such as post transcriptional regulation of genes.

210
Q

large sections of the genome are still what?

A

Large sections of the genome are still unknown

211
Q

What is a mutation?

A

Mutations are changes in the dna that can result in no protein or an altered protein being synthesised.

212
Q

Mutations occur when?

A

Mutations are spontaneous and usually randomly occurs and at low frequencies

213
Q

What can mutations affect?

A

May affect just one base of an organisms DNA or could affect the structure or number of whole chromosomes.

214
Q

When is an individual know as a mutant?

A

When the change in the genotype affects the phenotype of an organism

215
Q

What are some examples of mutagenic agents?

A

Radiation and chemicals

216
Q

Examples of radiation that causes mutations?

A

UV radiation, x-rays and gamma rays

217
Q

Examples of chemicals that cause radiation?

A

Bromine
Mustard gas
Nicotine
Tar

218
Q

What is a single gene mutation?

A

Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of the:

Substitution
Insertion
Deletion

Of a nucleotide

219
Q

In order for a protein to work properly what must happen?

A

The protein must have the correct order of amino acids which is determined by the DNA base sequence

220
Q

What is a substitution mutation?

A

A substitution mutation means one base is substituted for another and a wrong amino acid may be inserted into a protein

Usually these changes are minor but they can cause major problems in some cases I.e sickle cell anaemia

221
Q

What is an insertion mutations?

A

Insertion means a certain number of nucleotides are inserted into a DNA molecule and all the subsequent triplets are read incorrectly

The protein which is made will therefore probably have many different amino acids and may not work at all.

222
Q

What is a deletion mutation?

A

A deletion mutation means a certain number of nucleotides are removed from the DNA molecule and all the subsequent triplets are read incorrectly.

The protein which is made will therefore probably have many different amino acids and may not work at all.

223
Q

What does a protein require?

A

It requires the correct sequence of amino acids to function correctly.

224
Q

What happens if the base of a gene is disrupted?

A

If the base of a gene is disrupted the amino acid sequence may be disrupted as well

225
Q

What are the effects of a substitution mutation?

A

Missense
Nonsense
Splice site mutation

226
Q

What is a missense?

A

Results in one amino acids being changed for another.

This may results in a non-functional protein or have little effect on the protein.

227
Q

What is a nonsense?

A

A nonsense mutation results in a premature stop codon being produced which results in a shorter protein

228
Q

What is a splice site mutation?

A

Splice site mutations result in some introns being retained and/ or some Exons not being included in the mature transcript.

229
Q

What do splice site mutations alter?

A

It alters post-transcriptional processing

230
Q

What effects do nucleotide insertion and deletion mutations result in?

A

They result in frame-shift mutations which usually have greater effects than substitutions, especially if 1 or 2 bases are inserted or deleted

231
Q

What do frame-shift mutations do to mRNA codons?

A

They cause all of the codons and all of the amino acids after the mutation to be changed. This has a major effect on the structure of the protein produced.

232
Q

What do mutations bring source to?

A

New variation in living things

233
Q

What do mutations create?

A

New alleles

234
Q

What do new alleles give rise to?

A

Give rise to variation with a population

235
Q

What does variation within a population make possible?

A

Makes it possible for a population to revolve over time in response to change environmental conditions.

236
Q

How do mutations in chromosomes happen?

A

When one of more chromosomes breaks

237
Q

What are the broken ends of a mutated chromosome described as?

A

Broken ends are sticky and can join to another broken end

238
Q

What do changes in chromosomes structure involve?

A

They involve the number or sequence of genes on a chromosome being altered

239
Q

What are the four types of chromosome changes?

A

Duplication
Deletion
Inversion
Translocation

240
Q

What is a duplication chromosomal mutation?

A

Where a section of a chromosome is added from its homologous partner.

241
Q

How does a duplication chromosomal mutation work?

A

A segment of genes that may have been deleted from its homologous partner, becomes attached to one end of the chromosome or becomes inserted somewhere along its length.

242
Q

What can a duplication chromosomal mutation occasionally result in?

A

Can occasionally result in the duplication of an entire gene

243
Q

If an entire gene is duplicated what can happen to it?

A

The second copy of the gene is free from selection pressures which allows it to undergo point mutations that produce new DNA sequences without affecting the function of the original gene.

244
Q

What is the gene mutation thought to be important?

A

Gene duplication is thought to be an important driving force in evolution

245
Q

What is a deletion chromosomal mutation?

A

This is where a chromosome breaks in two places and the segment in between becomes detached. The two remaining ends then join up which results in a shorter chromosome which lacks certain genes.

246
Q

What effect does deletion chromosomal mutations have?

A

They normally have drastic effects on the organisms involved

247
Q

What is an inversion chromosomal mutation?

A

Inversion is where a section of chromosomes is reversed

This is where a chromosome breaks in two place releasing a section which turns around then joins back up again. This reverses the normal sequence of genes in the affected section of chromosome.

248
Q

What is translocation?

A

Where a section of a chromosome is added to a chromosome that is not its homologous partner

249
Q

What are the two types of translocation?

A

Reciprocal translocation

Non-reciprocal translocation

250
Q

What is reciprocal translocation?

A

It occurs when chromosomal segments are exchanged between two non-homologous chromosomes and is the most typical type of translocation.

251
Q

What is non-reciprocal translocation?

A

A one-way transfer of a chromosomal segment to another chromosome

252
Q

What is evolution?

A

Evolution is the changes in organisms over generation as result of genomic variations.

253
Q

What is the key process in evolution?

A

Inheritance

254
Q

What are the two main ways of transferring genetic material from one organism to another?

A

Vertical gene transfer

Horizontal gene transfer

255
Q

What is vertical gene transfer?

A

Where genes are transferred from a parent to offspring

256
Q

What type of organism does vertical gene transfer occur in?

A

Eukaryotes and prokaryotes

257
Q

What is vertical gene transfer resulted from?

A

Sexual or asexual reproduction

258
Q

What happens in sexual reproduction in terms of gene transfer?

A

Genetically diverse parents produce offspring showing genetic variation

259
Q

What happens in asexual reproduction in terms of gene transfer?

A

A single parent produces offspring with the same genome

260
Q

What is horizontal gene transfer?

A

Where genes are transferred between individuals in the same generation

261
Q

What is horizontal gene transfer resulted from?

A

It occurs from prokaryotes

262
Q

What does horizontal gene transfer result?

A

Faster evolutionary changes than in organism that only use vertical transfer as it allows new genetic sequences to be transferred between prokaryotes very quickly.

Allowing rapid evolution of prokaryotes

263
Q

Why is horizontal gene transfer risky?

A

It’s risky strategy as they are no guarantees the transferred genetic material will give an advantage

264
Q

What does genetic transfer between species do?

A

It may confer some advantages

265
Q

What happens once a sequence is transferred horizontally?

A

It may be passed on vertically to the next generation

266
Q

What can eukaryotes not do in reference to gene transfer?

A

Carry out horizontal inheritance

However they can revive horizontally from bacteria and viruses

267
Q

What is natural selection?

A

Natural selection is the one non-random increase in frequency of DNA sequences that increase survival and the non-random reduction in frequency of deleterious DNA sequences.

268
Q

What does natural selection eliminates?

A

It eliminates less well adapted organisms, usually preventing their growth or killing them.

269
Q

What happens to certain characteristics during natural selection?

A

The become more or less common in a population due to factors within the environment

270
Q

Step one of natural selection is?

A

Mutations change genotypes which leads to phenotype changes

271
Q

Step two of natural selection is?

A

Natural selection pressures acts on phenotypes

272
Q

Step three of natural selection is?

A

Extinction of organisms with phenotypes which have reduced selective advantage

273
Q

Step four of natural selection is?

A

Competition leads to survival or organisms with phenotypes with selective advantages

274
Q

Step five of natural selection is?

A

Breeding leads to increase in frequency of mutations which gave selective advantage

275
Q

What can cause the change in phenotype frequency?

A

Stabilising selection
Directional selection
Disruptive selection

276
Q

What is stabilising selection?

A

In stabilising selection the average phenotype is selected for and the extreme of the phenotype range are selected against

277
Q

What is directional selection?

A

In directional selection one extreme of the phenotype range is selected for?

278
Q

What is disruptive selection?

A

In disruptive selection two or more phenotypes are selected for

279
Q

What is a species?

A

A group of organism capable of interbreeding and producing fertile offspring and which does not normally breed with other groups

280
Q

What is speciation?

A

The generation of new biological species by evolution as a result of isolation mutations and selection.

281
Q

How does a species remain one species?

A

As long as a population has the opportunity to interbreed and exchange genes, they remain one species

282
Q

How does a population of one species revolve into more then one?

A

It evolves into more then one species if groups within the population become isolated by barriers that prevent exchange of genes

283
Q

What are the three main stages of speciation?

A

Isolation by a barrier

Mutations

Natural selection

284
Q

Stages speciation are?

Step 1

A

One species exists which interbreeds and shares the same gene pool

285
Q

Step two of speciation is?

A

Isolation

The population becomes isolated by a barrier into two sub-populations, this means they no longer interbreed

286
Q

Step three of speciation is?

A

Mutations

Mutations occur at random, different mutations occur in each of the sub-populations causing new variation

287
Q

Step four for speciation is?

A

Natural selection

Natural selection acts on each sub-group in a different way due to different selection pressures

288
Q

Once the steps of speciation happens what happens next?

A

Over a long period of time the gene pools in the two sub populations become so altered that the groups cannot interbreed

289
Q

What happens if the isolation barrier is removed?

A

The population cannot interbreed therefore speciation has occurred

290
Q

What are the two types of speciation?

A

Allopatric speciation

Sympatric speciation

291
Q

What is allopatric speciation?

A

The gene flow between two or more populations is prevented by a geographical barrier.

292
Q

What are geographical barriers?

What are some examples of geographical barriers?

A

Physical barriers on earth

River
Mountains
Deserts
Sea/ocean

293
Q

Step one of allopatric speciation is?

A

Large interbreeding population

294
Q

Step two of allopatric speciation is?

A

Isolation of population

295
Q

Step three of allopatric speciation is?

A

Separate populations mutate randomly giving rise to new variation

296
Q

Step four of allopatric speciation is?

A

Natural selection favours mutants

297
Q

Step five of allopatric speciation is?

A

Over a long period of time natural selection increases frequency of new alleles

298
Q

Step six of allopatric speciation is?

A

Speciation has occurred

Species A and B cannot interbreed even if barrier is removed

299
Q

What is sympatric speciation?

A

The population live in close proximity in the same environment but still become genetically isolated

Sympatric speciation is the evolution of new species in populations that live in the same geographic area

300
Q

What are two barriers in sympatric speciation?

A

Behavioural and ecological

301
Q

What is a ecological barrier?

A

Is a barrier that is caused by changes in abiotic factors and food availability

302
Q

What is a behavioural barrier?

A

Barrier which is caused by populations becoming sexually receptive at different times of the year or having different breeding patterns or rituals

303
Q

Step one of sympatric speciation is?

A

Large interbreeding population sharing the same ecological niche

304
Q

Step two of sympatric speciation is?

A

Alternative ecological niche spears. Some members of the population start to exploit the new niche

305
Q

Step three of sympatric speciation is?

A

Two populations now exploit different resources and no longer interbreed.

Behaviour has become an isolation barrier

306
Q

Step four of sympatric speciation is?

A

Mutants better adapted to exploit the new resources appear and successfully breed

307
Q

Step five of sympatric speciation is?

A

Natural selection favours the new mutants and eventually over a period of time two genetically distinct species are formed which can no longer interbreed.

308
Q

What is a genome?

A

A complete set of genetic material is a genome

309
Q

What is genomics?

A

The study of genomes and involves sequencing an organisms DNA

310
Q

To study the genome what must be found out?

A

The order of the bases along the entire length of an organisms DNA

311
Q

What must scientists first determine before studying genomics?

A

The entire DNA sequence of the organism being studied

312
Q

What can the entire DNA sequence of an organism be used for?

A

Sequence an individual gene or whole genome

313
Q

How is the DNA sequence analysed?

A

The information of the order of bases is analysed using computer technology and statistical analysis

314
Q

What is bioinformatics?

A

The fusion of molecular biology with computer technology and statistical analysis

315
Q

What does bioinformatics allow an organism to do?

A

Allows an organisms genome to be mapped and the information analysed very quickly

316
Q

What can the information contained within the genome be used to discover?

A

Evolutionary relationships

Patterns of inheritance

Personalised medicine

317
Q

What are the examples of genomics being able to determine the genome of a range of organisms?

A

Disease causing organisms

Pest species

Species that are important model organisms

318
Q

What is an example of a disease causing organism?

A

Pathogens- bacteria or viruses

319
Q

What is any example of pest species?

A

Mosquitoes

320
Q

What does it mean by a species that are important model organisms?

A

An organism that posses genes equivalent to human genes and can be easily studied in a lab

321
Q

Step one of genomic sequencing is?

A

A restriction endonuclease (restriction enzyme) is an enzyme that recognises specific short sequences of DNA nucleotides called restriction sites.

These enzymes will then ‘cut’ the DNA at every point where these sequences appear

322
Q

Step two of genomic sequencing is?

A

A portion of dna with an unknown base sequence is chosen to be sequenced

Many copies of this DNA’s strand are synthesised using PCR.

In order to make dna strands that are complementary to these template strands, all the ingredients needed for synthesis are added to the preparation.

DNA polymerase, primer and four types of DNA nucleotides.

In addition the preparation receives a supply of modified nucleotides each tagged with different fluorescent dye

323
Q

What is section two of step two of genomic sequencing?

A

Every so often during the synthesis process a molecule of modified nucleotides just happens to be take up instead of a normal one.

When a modified nucleotide is incorporated into the new dna strand it brings the synthesis of that strand to a halt because a modified nucleotide does not allow a subsequent nucleotide to become bonded to it.

Provided that the process is carried out on a large enough scale the synthesis of a complementary strand will have been stopped at every possible nucleotide position on the DNA template

324
Q

Step three of genomic sequencing is?

A

The mixture of dna fragments of various lengths is separated using electrophoresis. In this process the smallest fragment travel the furthest distance.

Identity and sequencing of nucleotides as indicated by the fluorescent dyes, is then read for the complementary DNA using this separation.

From this information, the sequence of the bases in the original DNA can be deduced

325
Q

Step four in genomic sequencing is?

A

Process has been automated by linking the detection of the four fluorescent dyes to a computer. As those are monitored, the computer working as an automated sequencing analyser process les the information and rapidly displays the sequence of bases in the dna sample as a series of peaks

326
Q

What is the genome shotgun approach?

A

Once the sequence has been determined the pieces have to be put back together.

This is done by computer analysis of the sequences looking for sections that over-lap

Computer analyses all areas of overlap between dna fragments in a sample and is able to compile a complete genome based in these overlaps

Die to fragments all having DNA sequenced this procedure enables scientists to determine the sequence of bases for individual genes and for entire genomes.

327
Q

What does comparative genomics compare the sequenced genome of?

A

Members of the same species

Members of different species

Cancerous versus normal cells

328
Q

What does comparing genomes of members of the same species allow?

A

Allows scientists to discover which genetic sequences cause illness

329
Q

What does comparing genomes of members of the different species allow?

A

Whether they have important genetic sequences in common

330
Q

What does comparing genomes of members of cancerous cells v non-cancerous cells of the same individual allows?

A

Scientists to investigate the specific ‘driver’ mutation that causes a healthy cell to divide uncontrollably and form a tumour

331
Q

What happened when scientists compared genomes from different species?

A

They noted that many parts of the genome are highly conserved

332
Q

What does concerned mean?

A

Identical or almost identical

333
Q

Why are the concerned regions of dna useful?

A

They are useful in determining evolutionary relationships. The greater the number of conserved DNA sequences species have in common the more closely related they are

334
Q

What is an SNP?

A

An SNP is a single nucleotide polymorphism. Cause by a variation in DNA sequence that affects a single base pair in a dna chain.

335
Q

What do SNP’s do?

A

They are one of the way in which genomes are found to differ from one another

336
Q

The use of bioinformatics helps with SNP’s how?

A

It has enabled scientists to catalogue more than a million SNP’s and and specify their exact locations in human genome.

Believing that the SNP map will help them identify and understand the workings of genes associated with disease

337
Q

What are SNP’s regarded as and what can the aid with?

A

They are regarded as valuable tool in research

May aid in the development of future treatment for genetic disorders

338
Q

What is polygenetics?

A

The study of evolutionary history and relationships

339
Q

What does polygenetics use?

A

Genome sequence data to deduce evolutionary relationships which indicate how closely related different species are

340
Q

What would the sequence of closely related species look like?

A

Closely related species are found to have very similar genomes in the sequence of their nucleotide bases.

341
Q

What would the sequence of distantly related species look like?

A

They are found to have genomes that are less similar in the sequence of their nucleotide bases

342
Q

What is a phylogenetic tree?

A

A diagram that shows the evolutionary relationships

The closer two species are on the tree the more closely related they are to each other

343
Q

What is sequence divergence?

A

A group of closely related living things acquire its own set of mutations which gradually alter their genome

If group gives rise to two groups they become more and more different from one another and eventually diverge.

Changes occur in each groups genome that are distinct from those occurring in the groups genome

The more different the base sequenced two genomes the more distantly related the two group must be.

This information can be used to estimate the time since the groups diverged

344
Q

What does it mean if you can trace a common ancestor of two species relatively recently?

A

This means the species diverged recently and can be described as closely related

345
Q

What can infer with evolutionary relatedness?

A

Can be inferred by the number of changes to the genome when comparing the two species

346
Q

What are molecular clocks?

A

Are used to show when species diverged during evolution

347
Q

What do molecular clocks assume?

A

A constant mutation rate and show difference in DNA sequence or amino acid sequences

348
Q

What does the difference In sequence data between species indicate?

A

Indicates the time of divergence from common ancestor

349
Q

The comparison of rRNA sequence provides evidence of three domains of life

What are they?

A

Bacteria- traditional prokaryote

Archaea- most prokaryotes that inhabit extreme environments such as hot spring and salt lakes

Eukaryotes- animal, plants, fungi

350
Q

What does personalised genomics involve?

What can the information predict?

A

Sequencing individuals genome and analysis if it using bioinformatic tools

The likelihood of developing certain diseases

351
Q

What is the ultimate goal of personalised genomics?

What does this mean?

A

Produce personalised medicine (pharmacogenetics)

It means giving patients drugs which suit their exact metabolism based on their genomics

352
Q

Pharmacogenetics refer to what?

A

Genetic differences in metabolic pathways which can affect individual responses to drugs

353
Q

What is hoped analysing a persons genome will do?

A

Most suitable drug and the correct dosage can be prescribed

This would increase the success of treatment and reduce any side effects

354
Q

What is hoped pharmacogenetics will do in the future?

A

Help inform someone if their genetic predisposition of any sort of disease

355
Q

What are the ethical issues for pharmacogenetics?

A

The main issue is who has the right to see the information

Higher Biology (3 decks)

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