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H Biology > Unit 1: DNA and the genome > Flashcards

Unit 1: DNA and the genome Flashcards

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1
Q

what does the nucleus store?

A

genetic information

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2
Q

where are chromosomes found?

A

nucleus

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3
Q

what packages the genetic information?

A

chromosomes

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4
Q

what are chromosomes made of?

A

DNA

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5
Q

what is the shape of DNA?

A

two strands which form a twisted structure (double helix)

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6
Q

what is each strand of DNA made up of?

A

nucleotides

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7
Q

what are the three parts of a nucleotide?

A

phosphate, deoxyribose sugar, base

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8
Q

what are nucleotides in a chain joined together by?

A

sugar-phosphate bonds

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9
Q

what is the name for a chain of nucleotides?

A

polynucleotides

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10
Q

what type of backbone does dna have?

A

sugar-phosphate backbone

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11
Q

where do the nucleotides bond at?

A

3’ and 5’

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12
Q

how is 3’ pronounced?

A

three prime

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13
Q

what base pairs with thymine?

A

adenine

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14
Q

what base pairs with guanine?

A

cytostine

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15
Q

what base pairs with adenine?

A

thymine

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16
Q

what base pairs with cytosine?

A

guanine

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17
Q

what joins the base pairs?

A

hydrogen bonds

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18
Q

what is the shape of the double helix called?

A

anti-parallel

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19
Q

what does anti-parallel mean in dna?

A

the nucleotides on one side goes from 5’ to 3’ and the other 3’ to 5’

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21
Q

describe a prokaryotic cell

A
  • dna is not housed within nuclear envelope
  • dna is stored in single circular chromosome
  • small circular SNA is called plasmid
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21
Q

give an example of a prokaryotic cell

A

bacteria cell

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22
Q

describe how dna is stored in prokaryotic cells?

A

dna is not housed within nuclear envelope, it is stored in a single circular chromosome

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23
Q

where is dna not stored in a prokaryotic cell?

A

the nucleus

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24
Q

where is dna stored in a prokaryotic cell?

A

in small circular dna (called plasmids)

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25
Q

what is a plasmid

A

small circular dna

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26
Q

what is the purpose of dna supercoiling?

A

to package dna to fit inside a cell

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27
Q

describe the relationship of dna in and histones in eukaryotes

A

each nucleosome consists of clusters of 8 histone proteins , the dna is weapped around it

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28
Q

describe the storage of dna in eukaryotic cells

A

dna is housed within a nuclear envelope, linear dna is packaged with proteins

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29
Q

where are circular chromosomes also found?

A

mitochondria and chloroplasts

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30
Q

What is the DNA parental strand composed of?

A

2 complementary strands

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31
Q

What is step 1 of dna replication?

A

Hydrogen bonds between the bases break - separating the strands

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32
Q

What is step 2 of dna replication?

A

Free nucleotides start to line up with complementary nucleotides

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33
Q

What is step 3 of dna replication?

A

The sugar phosphate bonds form. Two dna molecules identical to the parental molecule have been formed

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34
Q

What are the 3 steps of dna replication?

A
  1. Hydrogen bonds between the bases break - separating the strands
  2. Free nucleotides start to line up with complementary nucleotides
  3. The sugar phosphate bonds form. Two dna molecules identical to the parental molecule have been formed
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35
Q

What does the enzyme DNA polymerase control?

A

Controls the formation of the sugar-phosphate bonds when making the new strand

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36
Q

What enzyme controls the formation of the sugar phosphate bonds when making the new strand?

A

DNA polymerase

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37
Q

What does dna polymerase do?

A

Adds dna nucleotides using complementary base pairings to the 3’ end of the new dna strand

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38
Q

What does dna polymerase need to start replication?

A

Primers

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39
Q

What is a primer?

A

A short strand of nucleotides which binds the 3’ end of the template DNA strand allowing polymerase to add DNA nucleotides

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40
Q

What is PCR?

A

DNA replication in a lab setting

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41
Q

What is the full name of PCR?

A

polymerase chain reaction

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42
Q

Another name for dna replication

A

DNA amplification

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43
Q

Why is dna replication sometimes called dna amplification?

A

Because PCR allows specific sections of dna to be amplified in vitro

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44
Q

What is the meaning of in vitro?

A

In glass

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45
Q

First stage of PCR?

A
  1. DNA is heated at 92-98 degrees Celsius for a few seconds. This causes the dna to separate
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46
Q

What temperature is dna heated to in stage 1 of PCR?

A

92-98 C

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47
Q

What stage of PCR heats dna to 92-98 C?

A

Stage 1

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48
Q

What is stage 2 of PCR?

A
  1. Dna is cooled to 50 - 65 C. This allows short primers to bind to target sequence
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49
Q

What temperature is dna heated to in stage 2 of PCR?

A

50 - 65 C

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50
Q

What stage of PCR heats dna to 50 - 65 C?

A

Stage 2

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51
Q

What is stage 3 of PCR?

A

DNA is heated to 70 - 80 C. This allows a heat tolerant DNA polymerase to replicate the dna.

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52
Q

What temperature is dna heated to in stage 3 of PCR?

A

70 - 80 C

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53
Q

What stage of PCR heats dna to 70 - 80 C?

A

Stage 3

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54
Q

What is the number of double stranded copies of dna after 0 PCR cycles?

A

1

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55
Q

What is the number of double stranded copies of original DNA after 1 cycle?

A

2

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56
Q

What is the number of double stranded copies of original DNA after 1 cycle?

A

2

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57
Q

What is the number of double stranded copies of orignal DNA after 0 PCR cycles?

A

1

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58
Q

What is the number of double stranded copies of orignal DNA after 1 PCR cycles?

A

2

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59
Q

What is the number of double stranded copies of orignal DNA after 2 PCR cycles?

A

4

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60
Q

Three requirements for PCR

A
  1. Primers
  2. Supply of nucleotides
  3. Heat tolerant DNA polymerase
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61
Q

Description of an example of PCR

A

Genetic Disorder Diagnosis - DNA sequences that are known to indicate certain genetic disorders or diseases are amplified using PCR for diagnosis.

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62
Q

Why does DNA supercoil

A

So that dna fits inside a cell

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63
Q

DNA in eukaryotes

A
  • chromosomes tightly coiled and packaged within histones
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64
Q

What cells have chromosomes tightly coiled and packaged within histones

A

Eukaryotes

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65
Q

Properties of a eukaryotic cell

A
  • dna is housed within a nuclear envelope
  • linear DNA is packaged with proteins
  • circular chromosomes are also found in mitochondria and chloroplasts
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66
Q

Why is yeast a special example of a eukaryotes

A

It also has plasmids

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67
Q

Special example of a eukaryote

A

Yeast

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68
Q

DNA replication on the leading strand

A
  1. dna is unwound and hydrogen bonds between bases break to form two template strands
  2. a DNA primer binds to the 3’ end of the template DNA being copied
  3. DNA polymerase can add free nucleotides in one direction

this is a CONTINUOUS PROCESS until the LEADING STRAND is copied

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69
Q

DNA polymerase can only be added to ___ the end of the new strand

A

3’

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70
Q

Describe how DNA rectification takes place on the 5’ to 3’ strand (lagging strand)

A
  • many primers attach along the strand
  • these are extended by the DNA polymerase
  • these fragments are then joined by the enzyme ligase

this is a discontinuous process

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71
Q

requirements for DNA replication

A
  • DNA (to act as template)
  • primers
  • a supply of the 4 types of nucleotide
  • DNA polymerase
  • ligase enzymes
  • a supply of ATP (energy)
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72
Q

function of ligase

A

enzyme which joins fragments together

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73
Q

function of unwinding and breaking bonds between bases

A

template DNA strand does this in preparation for replication

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74
Q

function of primer

A

starting point for DNA synthesis

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75
Q

function of semi-conservative strands wind up

A

2 genetically identical strands are synthesised

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76
Q

function of DNA polymerase

A

enzyme that adds nucleotides to new strand

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77
Q

How is dna packaged in prokaryotes

A

Circular chromosomes
Always have plasmids

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78
Q

Circular chromosomes
Always have plasmids

A

How dna is packaged in prokaryotes

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79
Q

How is dna packaged in eukaryotes

A

Linear chromosomes with histones
Always have plasmids

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80
Q

Full names of all bases

A

Cytosine
Guanine
Thymine
Adenine

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81
Q

Linear chromosomes with histones

Always have plasmids

A

How is dna packaged in eukaryotes

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82
Q

Gene expression

A

The transcription and translation of DNA sequences

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83
Q

The transcription and translation of DNA sequences

A

Gene expression

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84
Q

What is

DNA —-> RNA

A

transcription

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85
Q

transcription

A

DNA —-> RNA

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86
Q

What is

RNA —> AMINO ACID CHAIN

A

translation

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87
Q

Translation

A

RNA —> AMINO ACID CHAIN

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88
Q

mRNA

A

Carries a copy of DNA code from nucleus to the ribosome

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89
Q

Carries a copy of DNA code from nucleus to the ribosome

A

mRNA

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90
Q

what does mRNA carry from the nucleus to the ribosome

A

a copy of the DNA code

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91
Q

where does mRNA carry a copy of the DNA code to and from?

A

From the nucleus to the ribosome

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92
Q

tRNA

A

folds due to complementary base pairings

Each tRNA carries it’s specific amino acid to the ribosome

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93
Q

folds due to complementary base pairings

Each tRNA carriers it’s specific amino acid to the ribosome

A

tRNA

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94
Q

folding

A

AMINO ACID —> PROTEIN

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95
Q

What is …

AMINO ACID —> PROTEIN

A

Folding

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96
Q

Why does tRNA fold

A

Complementary base pairings

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97
Q

what does complementary base pairings cause tRNA to do

A

fold

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98
Q

what does each tRNA carry

A

It’s specific amino acid

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99
Q

where does tRNA carry it’s specific amino acid to

A

The ribosome

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100
Q

rRNA

A

proteins form in the ribosome with rRNA

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101
Q

What is phenotype determined by

A

Proteins produced as a result of Gene expression

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102
Q

what does Proteins produced as a result of gene expression determine

A

Phenotype

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103
Q

What does gene expression involve

A
  1. Transcription of DNA sequences
  2. Translation of DNA sequences
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104
Q

what involves

  1. Transcription of DNA sequences
  2. Translation of DNA sequences
A

Gene expression

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105
Q

only a _____ of the genes in a cell are expressed

A

Fraction

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106
Q

only a fraction of the genes in a cell are ________

A

Expressed

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107
Q

What do amino acids build up to

A

Protein molecule

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108
Q

What do three bases carry the code for

A

One amino acid

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109
Q

What carries the code for one amino acid

A

Three bases

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110
Q

What makes each amino acid different

A

The combination and sequence of bases

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111
Q

DNA nucleotide

A

Phosphate deoxyribose sugar base

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112
Q

Phosphate deoxyribose sugar base

A

DNA nucleotides

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113
Q

RNA nucleotide

A

Phosphate ribose sugar base

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114
Q

Phosphate ribose sugar base

A

RNA nulceotide

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115
Q

Similarities of DNA and RNA nucleotides

A
  1. Phosphate
  2. Base
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116
Q
  1. Phosphate
  2. Base
A

Similarities of DNA and RNA nucleotides

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117
Q

difference of DNA and RNA nucleotides

A

DNA has deoxyribose sugar

RNA has ribose sugar

DNA has Thymine

RNA has uracil

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118
Q

DNA has deoxyribose sugar

RNA has ribose sugar

DNA has Thymine

RNA has uracil

A

Difference of DNA and RNA nucleotides

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119
Q

in RNA, what replaces thymine?

A

Uracil

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120
Q

What does uracil pair with

A

Adenine

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121
Q

DNA overview

A

Double stranded
Has thymine
No uracil

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122
Q

Double stranded
Has thymine
No uracil

A

DNA overview

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123
Q

RNA overview

A

Single stranded
No thymine
Has uracil

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124
Q

Single stranded
No thymine
Has uracil

A

RNA overview

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125
Q

Gene

A

A section of DNA which carries the code for the production of a protein

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126
Q

A section of DNA which carries the code for the production of a protein

A

Gene

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127
Q

Protein synthesis

A

When the instructions on DNA sequences are carried to ribosomes where they are translated into proteins

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128
Q

When the instructions on DNA sequences are carried to ribosomes where they are translated into proteins

A

Protein synthesis

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129
Q

where is mRNA transcribed

A

the nucleus

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130
Q

what is transcribed in the nucleus

A

mRNA

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131
Q

Codon

A

Three DNA bases on mRNA

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132
Q

Three bases on mRNA

A

Codon

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133
Q

What is mRNA transcribed from

A

DNA sequences

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134
Q

What is mRNA translated into

A

Proteins

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135
Q

Where does mRNA get translated

A

The cytoplasm

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136
Q

what is translated in the cytoplasm

A

the mRNA

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137
Q

what translates mRNA

A

ribosomes

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138
Q

where is the mRNA molecule produced

A

Nucleus

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139
Q

How does mRNA leave the nucleus

A

Through a pore in the nuclear membrane

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140
Q

what leaves the nucleus Through a pore in the nuclear membrane

A

mRNA

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141
Q

where does mRNA go after leaving the nucleus

A

Cytoplasm

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142
Q

RNA polymerase

A

enzyme responsible for the transcription of DNA

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143
Q

enzyme responsible for the transcription of DNA

A

RNA polymerase

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144
Q

What does RNA polymerase do

A
  1. Moves along the DNA strand unwinding the double helix and breaking the hydrogen bonds between the bases
  2. RNA polymerase then adds nucleotides using complementary base pairings (U instead of T)
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145
Q
  1. Moves along the DNA strand unwinding the double helix and breaking the hydrogen bonds between the bases
  2. RNA polymerase then adds nucleotides using complementary base pairings (U instead of T)
A

What does RNA polymerase do

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146
Q

First thing RNA polymerase does

A
  1. Moves along the DNA strand unwinding the double helix and breaking the hydrogen bonds between the bases
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147
Q

Second thing RNA polymerase does

A
  1. RNA polymerase then adds nucleotides using complementary base pairings (U instead of T)
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148
Q
  1. RNA polymerase then adds nucleotides using complementary base pairings (U instead of T)
A

Second thing RNA polymerase does

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149
Q
  1. Moves along the DNA strand unwinding the double helix and breaking the hydrogen bonds between the bases
A

First thing DNA polymerase does

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150
Q

What does RNA polymerase produce

A

mRNA transcript

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151
Q

RNA polymerase adds nucleotides onto the ____ end of the _____ _____ _____

A

3’

Growing mRNA molecule

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152
Q

What means that the mRNA produced will be complementary to the DNA

A

base pairing rules

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153
Q

what is mRNA because of base pairings rules

A

Complementary to DNA

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154
Q

intron

A

Non coding region of a gene

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155
Q

Non coding region of a gene

A

Intron

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156
Q

Exon

A

Coding region of a gene

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157
Q

Coding region of a gene

A

Exon

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158
Q

Exons are ______

A

Expressed

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159
Q

Transcription

A

DNA > PRIMARY TRANSCRIPT

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160
Q

DNA > PRIMARY TRANSCRIPT

A

transcription

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161
Q

What are introns removed from

A

The primary transcript

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162
Q

What are removed from the primary transcript

A

Introns

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163
Q

In the formation of the mature transcript, exons are …

A

Sliced together

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164
Q

What is spliced together in the formation of the mature transcript

A

Exons

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165
Q

What is produced when exons are spliced together

A

Mature transcript

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166
Q

Where is the mature transcript produced

A

Nucleus

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167
Q

Where does the mature transcript go after production

A

Cytoplasm

168
Q

After mRNA has been transcribed, what is removed

A

Introns

169
Q

When are introns removed

A

After mRNA has been transcribed

170
Q

The order of exons is _______ during slicing

A

Unchanged

171
Q

Where is transfer RNA found

A

The cytoplasm

172
Q

Why do tRNA fold

A

Complementary base pairings

173
Q

what does tRNA have

A
  1. Anti codon site
  2. Amino acid site
174
Q
  1. Anti codon site
  2. Amino acid site
A

tRNA

175
Q

What does each tRNA molecule carry

A

It’s specific amino acid

176
Q

Where does each tRNA carry its amino acid to and from

A

From the cytoplasm to the ribosome

177
Q

where are anti codon found

A

tRNA

178
Q

ribosomes

A

small almost spherical structures found in all cells

179
Q

small almost spherical structures found in all cells

A

ribosomes

180
Q

what form the ribosome

A

rRNA and proteins

181
Q

what do rRNA and proteins form

A

ribosome

182
Q

where are ribosomes found

A

some are free in the cytoplasm

others attached to the endoplasmic reticulum

183
Q

what are found in…..

some are free in the cytoplasm

others attached to the endoplasmic reticulum

A

ribosomes

184
Q

what are ribosome the site of

A

translation of mRNA into protein

185
Q

where does translation of mRNA into protein happen

A

ribosomes in the cytoplasm

186
Q

where does translation begin

A

at the start codon

187
Q

what begins at the start codon

A

translation

188
Q

what ends at the stop codon

A

translation

189
Q

where does translation end

A

the stop codon

190
Q

what do anti codons bond to

A

codons

191
Q

how do anticodons bond to codons

A

buy complementary base pairings

192
Q

what happen when anticodons bond to codons

A

translates the genetic code into a sequence of amino acids

193
Q

translates the genetic code into a sequence of amino acids

A

what happens when anticodons bond to codons

194
Q

what does the anticodons bonding to the codons form

A

peptide bonds

195
Q

when do peptide bonds form

A

when anticodons bond to codons

196
Q

what joins amino acids together

A

peptide bonds

197
Q

what do peptide bond join together

A

amino acids

198
Q

what does tRNA do when peptide bonds form

A

tRNA leaves the ribosome

199
Q

when does protein synthesis end

A

at the stop codon

200
Q

_________ proteins can be expressed from one gene, because of ___________

A

different

alternative splicing

201
Q

different proteins can be __________ from __________, because of alternative splicing

A

expressed from one gene

202
Q

different ___________ are produced from the same ____________ depending on which ________________

A

different mature mRNA transcripts are produced from the same primary strand depending on which exon are retained

203
Q

cellular differentiation

A

the process by which a cell expresses certain genes to produce proteins characteristic for that type of cell

204
Q

the process by which a cell expresses certain genes to produce proteins characteristic for that type of cell

A

cellular differentiation

205
Q

what does cellular differentiation allow a cell do to

A

to carry out specialised functions

206
Q

what allows cells to carry out specialised functions

A

cellular differentiation

207
Q

what does every cell in a body have?

A

all genes

208
Q

what cells have all genes

A

every cell

209
Q

what can a cell do to its genes

A

switch them on or off when they are required

210
Q

why do cells turn genes on and off

A

to not waste energy

211
Q

example of selective gene expression

A

insulin produced in pancreas cells, not in heart or brain cells

212
Q

insulin produced in pancreas cells, not in heart or brain cells

A

example of selective gene expression

213
Q

in multicellular plants, where is growth restricted to

A

regions called meristems

214
Q

in what is growth restricted to meristems

A

multicellular plants

215
Q

meristems

A

regions of unspecialised cells in plants that can divide and/or differentiate

216
Q

regions of unspecialised cells in plants that can divide and/or differentiate

A

meristems

217
Q

each cell type has a …

A

different and specific

  1. structure
  2. shape
  3. size
  4. function
218
Q

different and specific

  1. structure
  2. shape
  3. size
  4. function
A

each cell has a

219
Q

stem cells

A

unspecialised cells in an animal that can….

  1. divide and self renew through cell division
  2. differentiate into specialised cells
220
Q

unspecialised cells in an animal that can….

  1. divide and self renew through cell division
  2. differentiate into specialised cells
A

stem cells

221
Q

sources of stem cells

A
  1. embryonic
  2. tissue
222
Q
  1. embryonic
  2. tissue
A

sources of stem cells

223
Q

embryonic stem cells extraction

A

zygote > blastocyst > stem cells

224
Q

zygote > blastocyst > stem cells

A

embryonic stem cells

225
Q

tissue stem cells extraction

A

bone marrow > bone marrow w lots of dif cells > bone marrow w stem cells > muscle cells, neural cells, etc

226
Q

bone marrow > bone marrow w lots of dif cells > bone marrow w stem cells > muscle cells, neural cells, etc

A

tissue stem cells extraction

227
Q

embryonic stems cells can _________ into ____ cell types in an organism

A

differentiate, all

228
Q

pluripotent

A

cell can differentiate into all cell types in an organism

229
Q

cell can differentiate into all cell types in an organism

A

pluripotent

230
Q

what can embryonic cells do with genes

A

switch them all on and off

231
Q

when do embryonic cells occur

A

in 5 - 7 day old embryos

232
Q

what stem cells can switch all genes on and off

A

embryonic cells

233
Q

tissue stem cells can differentiate into _______________ in a ________

A

all types of cell found in a particular tissue type

234
Q

tissue stem cells can differentiate into all types of cell found in a particular tissue type

A

multipotent

235
Q

multipotent

A

tissue stem cells can differentiate into all types of cell found in a particular tissue type

236
Q

what are tissue stem cells involved in

A

the growth, repair, and renewal of the cells found in that tissue

237
Q

what stem cells are involved in the growth, repair, and renewal of the cells found in that tissue

A

tissue stem cells

238
Q

where are tissue stem cells found

A

bone marrow, muscle, and brain tissue in the body

239
Q

what stem cells are found in bone marrow, muscle, and brain tissue in the body

A

tissue stem cells

240
Q

corneal repair

A
  1. corneal limbus stem cells grown in a lab
  2. corneal stem cells trasplanted onto diseased cornea
241
Q
  1. corneal limbus stem cells grown in a lab
  2. corneal stem cells trasplanted onto diseased cornea
A

corneal repair

242
Q

first step corneal repair

A
  1. corneal limbus stem cells grown in a lab
243
Q
  1. corneal limbus stem cells grown in a lab
A

first step corneal repair

244
Q

second step corneal repair

A
  1. corneal stem cells trasplanted onto diseased cornea
245
Q
  1. corneal stem cells trasplanted onto diseased cornea
A

second step corneal repair

246
Q

what does stem cell research provide info on

A

how cell processes such as cell growth, differentiation, and gene regulation occur

247
Q

how cell processes such as cell growth, differentiation, and gene regulation occur

A

what does stem cell research provide info on

248
Q

what can stem cells be used for

A

used as model cells to study how diseases develop for drug testing

249
Q

used as model cells to study how diseases develop for drug testing

A

what stem cells can be used for

250
Q

why are there ethical issues in stem cells

A

the destruction of embryos

251
Q

the destruction of embryos

A

ethical issues in stem cells

252
Q

Genome

A

The entire hereditary information encoded in the DNA of an organism

253
Q

The entire hereditary information encoded in the DNA of an organism

A

Genome

254
Q

Humans have _________ base pairs of DNA

A

Humans have 3 billion base pairs of DNA

255
Q

Humans have 3 billion ______________

A

Humans have 3 billion base pairs of DNA

256
Q

What do base pairs contain

A
  1. Protein coding genes
  2. Non protein coding genes
257
Q
  1. Protein coding genes
  2. Non protein coding genes
A

Base pairs of DNA

258
Q

Most of the eukaryotic genome consists of ____________

A

Most of the eukaryotic genome consists of non coding genes

259
Q

What % do coding regions make up of DNA

A

2%

260
Q

many non protein coding regions are _____________

A

many non protein coding regions are made of DNA sequences which are repeated over and over

261
Q

________________ DNA sequences which are repeated over and over

A

many non protein coding regions are made of DNA sequences which are repeated over and over

262
Q

What do non coding sequences do

A
  1. Regulate transcriptions
  2. Transcribed into RNA but never translated, like tRNA
263
Q

What…

  1. Regulate transcriptions
  2. Transcribed into RNA but never translated, like tRNA
A

Non-protein-coding regions

264
Q

Mutations

A

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

265
Q

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

A

Mutations

266
Q

Mutations arise ______ and at _______

A

Mutations arise spontaneously and at random

267
Q

What do mutation rates differ between

A

Different genes and different organisms

268
Q

Types of mutations

A
  1. Single gene mutations
  2. Chromosome structure mutations
269
Q
  1. Single gene mutations
  2. Chromosome structure mutations
A

Types of mutations

270
Q

Single gene mutations

A

A change in one of the base pairs in the DNA sequence of a single gene

271
Q

A change in one of the base pairs in the DNA sequence of a single gene

A

Single gene mutations

272
Q

What do single gene mutations occur in

A

The protein coding sequence or the regulatory sequences which control expression of the gene

273
Q

What occur in the protein coding sequence or the regulatory sequences which control expression of the gene

A

Single gene mutations

274
Q

Three single gene mutations

A
  1. Deletion
  2. Insertion
  3. Substitution
275
Q
  1. Deletion
  2. Insertion
  3. Substitution
A

3 types of single gene mutations

276
Q

Deletion

A

One nucleotide is deleted from the nucleotide sequence

277
Q

When one nucleotide is deleted from the nucleotide sequence

A

Deletion

278
Q

One nucleotide is inserted into the nucleotide sequence

A

Insertion

279
Q

Insertion

A

One nucleotide is inserted into the nucleotide sequence

280
Q

One nucleotide is swapped for another nucleotide in the sequence

A

Substitution

281
Q

Impact of single gene mutations

A

Missense mutations
Nonsense mutations
Splice site mutations
Frameshift mutations

282
Q

Missense mutations
Nonsense mutations
Splice site mutations
Frameshift mutations

A

Impact of single gene mutations

283
Q

Missense

A

One amino acid is changed for another

May result in a non functional protein or have little effect on protein

284
Q

One amino acid is changed for another

May result in a non functional protein or have little effect on protein

A

Missense

285
Q

Nonsense

A

Premature step codon produced

Shorter protein synthesised

286
Q

Premature step codon produced

Shorter protein synthesised

A

Nonsense

287
Q

Splice site mutation

A

Some introns being retained and/or some exons not being included in mature transcript

Protein doesn’t function properly

288
Q

Some introns being retained and/or some exons not being included in mature transcript

Protein doesn’t function properly

A

Splice site mutations

289
Q

Thalassemia

A

Disease caused by a defect inhoemeglobin synthesis, caused by a splice site mutation

290
Q

Disease caused by a defect inhoemeglobin synthesis, caused by a splice site mutation

A

Thalassemia

291
Q

Example of splice site mutation

A

Thalassemia

292
Q

Mutations from substitutions

A

Missense
Nonsense
Splice site

293
Q

A mutation in what can result in….

Missense
Nonsense
Splice site

A

Substitution

294
Q

Frame shift mutations

A

Cause all of the codons and amino acids after the mutationto be changed

Has a major effect on the structure of the protein produced

295
Q

all of the codons and amino acids after the mutationto be changed

Has a major effect on the structure of the protein produced

A

Frame-shift-mentations

296
Q

What causes frame-shift mutations

A

Insertion or deletion

297
Q

What does insertion cause

A

Frame shift mutations

298
Q

What does deletion cause

A

Frame shift mutations

299
Q

Chromosome structure mutations

A

A change in the chromosome structure due to the breakage of one a more chromosomes

300
Q

A change in the chromosome structure due to the breakage of one a more chromosomes

A

Chromosome structure mutations

301
Q

The substantial change in chromosome mutation results in what

A

Lethal

302
Q

What can be the result of insertion

A

Frame shift mutations

303
Q

What can be the result of substitution of a gene

A

Missense mutations

Nonsense mutations

Splice site mutations

304
Q

What can be the result of deletion

A

Frame shift mutations

305
Q

Types of chromosome structure mutations

A

Deletion

Duplication

Inversion

Translocation

306
Q

Deletion

Duplication

Inversion

Translocation

A

Types of chromosome mutations

307
Q

Chromosome deletion

A

A section of a chromosome is removed

308
Q

A section of a chromosome is removed

A

Chromosome deletion

309
Q

Effect of chromosome deletion

A

Drastic effect as genes are lost

310
Q

Example of chromosome deletion

A

Deletion of a party of chromosome 5 leads to Cri du Chat

311
Q

Duplication

A

A section of a chromosome is added from its homologous partner

312
Q

A section of a chromosome is added from its homologous partner

A

Duplication

313
Q

Effects of duplication

A

Set of genes are repeated

Can be detrimental but also important in evolution

314
Q

Set of genes are repeated

Can be detrimental but also important in evolution

A

Duplication

315
Q

Example of duplication

A

Duplication of oncogenes is a common cause of cancer

316
Q

Evolutionary importance of gene duplication

A

Allows potential beneficial mutations to occur In a duplicated gene whilst original gene can still be expressed to produce its protein

317
Q

Inversion

A

A section of chromosome is reversed

318
Q

A section of chromosome is reversed

A

Inversion

319
Q

Example of inversion

A

One cause of haemophilia A is the inversion within a blood clotting gene

320
Q

Translocation

A

A section of one chromosome is added to another chromosome, not its homologous partner

321
Q

A section of one chromosome is added to another chromosome, not its homologous partner

A

Translocation

322
Q

Example of translocation

A

One type of Down’s syndrome is caused by this

323
Q

Evolution

A

The changes in organisms over generations as a result of genetic variation

324
Q

The changes in organisms over generations as a result of genetic variation

A

Evolution

325
Q

Natural selection

A

The non random increase in the frequency of DNA sequences that increase survival and the non random decrease in the frequency of deleterious sequences

326
Q

The non random increase in the frequency of DNA sequences that increase survival and the non random decrease in the frequency of deleterious sequences

A

Natural selection

327
Q

Deleterious sequence

A

Any sequence that may produce a protein that causes harm

328
Q

Any sequence that may produce a protein that causes harm

A

Deleterious sequence

329
Q

Gene pool

A

The total of all the different genes in a population

330
Q

The total of all the different genes in a population

A

Gene pool

331
Q

What happens if a species is under no selective pressure

A

Frequencies of individual alleles will stay the same from generation to generation

332
Q

Types of selection

A

Stabilising

Directional

Disruptive

333
Q

Selection pressure

A

An environmental change that affects an organisms ability to survive and reproduce

334
Q

An environmental change that affects an organisms ability to survive and reproduce

A

Selection pressure

335
Q

Example of selection pressure

A

Increased competition

Temperature change

New diseases

336
Q

Stabilising selection

A

An average phenotype is selected for and extremes of the phenotype are selected against

337
Q

An average phenotype is selected for and extremes of the phenotype are selected against

A

Stabilising selection

338
Q

What does stabilising selection cause

A

Reducing in genetic diversity

339
Q

Directional selection

A

One extreme of the phenotype range is selected for

340
Q

One extreme of the phenotype range is selected for

A

Directional selection

341
Q

When is directional selection common

A

During periods of environmental change

342
Q

What selection happens during periods of environmental change

A

Directional selection

343
Q

Disruptive selection

A

Two or more phenotypes are selected for

344
Q

Two or more phenotypes are selected for

A

Disruptive selection

345
Q

What can disruptive selection result in

A

The population being split into two

346
Q

What does vertical transfer happen by

A

Asexual and sexual reproduction

347
Q

Natural selection happens much more _________ in prokaryotes

A

Quickly

348
Q

Why can prokaryotes go through natural selection much faster

A

Prokaryotes can exchange genetic material horizontally

349
Q

Vertical transfer

A

The transfer of genetic sequences from parents to offspring

350
Q

The transfer of genetic sequences from parents to offspring

A

Vertical transfer

351
Q

Horizontal transfer

A

When genes are transfer between individuals in the same generation

352
Q

When genes are transfer between individuals in the same generation

A

Horizontal transfer

353
Q

Species

A

a group of organisms capable of interbreeding and producing fertile offspring

354
Q

a group of organisms capable of interbreeding and producing fertile offspring

A

Species

355
Q

a group of organisms capable of interbreeding and producing fertile offspring

A

Species

356
Q

Speciation

A

The generation of new biological species by evolution

357
Q

The generation of new biological species by evolution

A

Speciation

358
Q

Types of speciation

A

Allopathic

Sympatric

359
Q

Geographical barriers cause……

A

Allopatric speciation

360
Q

Behavioural barriers cause……….

A

Sympatric speciation

361
Q

Ecological barriers cause…….

A

Sympatric speciation

362
Q

Allopatric speciation

A

When gene flow between 2 or more populations is prevented by a geographical barrier

363
Q

When gene flow between 2 or more populations is prevented by a geographical barrier

A

Allopatric speciation

364
Q

Allopatric speciation example

A

Rivers

Sea

Mountain ranges

365
Q

Steps of speciation

A
  1. Isolation
  2. Mutation
  3. Natural selection
  4. Speciation
366
Q

Sympatric speciation

A

Two or more populations live in close proximity in the same environment, but still become genetically isolated

367
Q

Two or more populations live in close proximity in the same environment, but still become genetically isolated

A

Sympatric speciation

368
Q

What causes Sympatric speciation

A

Behavioural or ecological barriers

369
Q

What causes allopatric speciation

A

Geographical barrier

370
Q

Ecological barrier

A

Groups not genetically isolated from each other

Isolated by other things such as occupying different habitats or breeding areas

371
Q

Groups not genetically isolated from each other

Isolated by other things such as occupying different habitats or breeding areas

A

Ecological barrier

372
Q

Behavioural barrier

A

Breeding between groups working a population may not be possible because of differences in courtship behaviour

373
Q

Breeding between groups working a population may not be possible because of differences in courtship behaviour

A

Behavioural barrier

374
Q

Stage 1 of speciation

A

Large interbreeding population sharing the same ecological niche

375
Q

Large interbreeding population sharing the same ecological niche

A

Stage 1 of speciation

376
Q

Stage 2 of speciation

A

Alternative ecological niches appears

Some members of the population start to exploit this niche

377
Q

Alternative ecological niches appears

Some members of the population start to exploit this niche

A

Stage 2 of speciation

378
Q

Stage 3 of speciation

A

The two populations now exploit different resources and no longer interbreed

Behavioural had become an isolating barrier

379
Q

The two populations now exploit different resources and no longer interbreed

Behavioural had become an isolating barrier

A

Stage 3 of speciation

380
Q

Stage 4 of speciation

A

Mutants better adapted to exploit the new resources and successfully breed

Both groups have had mutations

381
Q

Mutants better adapted to exploit the new resources and successfully breed

Both groups have had mutations

A

Stage 4 of speciation

382
Q

Stage 5 of speciation

A

Natural selection factors the new mutants

and eventually over a period of time two genetically distinct species are formed which can no longer interbreeding

383
Q

Mutants better adapted to exploit the new resources and successfully breed

Both groups have had mutations

A

Stage 5 of speciation

384
Q

genomics

A

the study of genes

385
Q

the study of genes

A

genomics

386
Q

What must you first do to study genomics

A

Determine the entire DNA sequence of the organism

387
Q

When was the entire human genome sequenced

A

2003

388
Q

Reasons for genomic sequencing

A

accurate diagnoses

specific pest control

Model sequencing

389
Q

Genomic sequencing accurate diagnoses

A

Disease causing organisms have been sequenced

Eg. Viruses to help with accurate diagnoses

390
Q

Genomic sequencing, specific pest control

A

Pest sequences have been sequenced to develop more specific measures to control rather than using general pesticides

391
Q

Genomic sequencing, model sequencing

A

Model organisms have been sequenced so that they can be used in medical research in place of mammals,

reducing ethical concerns and costs

392
Q

Bioinformatics

A

The use of computers and statistical analysis to identify and compare sequence date

393
Q

The use of computers and statistical analysis to identify and compare sequence date

A

Bioinformatics

394
Q

What can computer programs be used for in bioinformatics

A

To identify base sequences by looking for sequences similar to known genes

395
Q

What can highly conserved dna sequences by used for

A

To compare the genomes of two species

396
Q

What can be used to compare the genome of two species

A

Highly conserved DNA sequences

396
Q

Highly conserved sequences means..

A

Species more closely related

397
Q

Phylogenetics

A

The study of evolutionary history and relationships

398
Q

The study of evolutionary history and relationships

A

Phylogenetics

399
Q

What do phylogenetic trees show

A

How organisms are thought to have evolved into different species over time

400
Q

What shows how organisms are thought to have evolved into different species over time

A

Phylogenetic trees

401
Q

The further apart the species are on a phylogenetic tree………

A

The more distantly related they are

402
Q

Over time, a group of closely related relative living things will accumulate __________ that will gradually __________

A

Mutations

Alter the genome

403
Q

What do molecular clocks show

A

When species diverged during evolution

404
Q

What do molecular clocks assume

A

A constant mutation rate

405
Q

Requirements for molecular clocks

A

Genome sequence dna

Fossil evidence

406
Q

Pharmocogenetics

A

The use of genome information in the choice of drugs

407
Q

The use of genome information in the choice of drugs

A

Pharmocogenetics

408
Q

What could knowing the genome sequence of a person be used for

A

Select the most effective drugs

And dosages

409
Q
A
410
Q

DNA in prokaryotes

A

Circular chromosomes and plasmids

411
Q

Where is dna found in prokaryotes

A

Cytoplasm

412
Q

Eukaryotes dna

A

Linear chromosomes packaged with histones

Circular chromosomes found in mitochondria

413
Q

Where is linear dna found in eukaryotes

A

Nucleus

414
Q

Exception in eukaryotes

A

Yeast has plasmids

415
Q

Transcription summary

A

RNA polymerase unwinds DNA

hydrogen bonds between bases break

RNA polymerase attaches rna nucleotides with their complementary nucleotides

A primary transcript is produced

Exons - coding regions
Introns - non coding regions

Exons are spliced together to form mature transcript

416
Q

Translation

A

tRNA has an amino acid attachment site and an anti codon attachment site

tRNA carries its specific amino acid

Anticodons are complementary with codons on mRNA

There are start and stop codons on mRNA

peptide bonds firm between amino acids

H Biology (3 decks)

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