Unit One Flashcards

1
Q

What is a somatic cell

A

Is every cell in the body other than the cells involved in reproduction

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2
Q

Where are somatic cells found

A

Everywhere in the body

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3
Q

What produces the most somatic cells

A

Mitosis

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4
Q

How many chromosomes are in a somatic cell

A

46

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5
Q

Give examples of different types of tissue that form organs (3)

A

Muscle tissue
Nervous tissue
Epithelial tissue

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6
Q

Can mutations be passed onto offspring

A

They cannot be passed on

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7
Q

What is a germline cell

A

Gametes sex cells

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8
Q

Where are germline cells found (3)

A

In reproductive organs
Bone marrow
Embryo

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9
Q

What produces more germline cells

A

Meiosis

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10
Q

How many chromosomes are in a germline cell

A

23

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11
Q

Can mutations in germline cells be passed onto offspring

A

Yes

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12
Q

Describe meiosis

A

•homologous chromosomes separated
•chromosomes separated into single chromatids

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13
Q

What is differentiation

A

The process by which cells become specialised by switching on and off genes

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14
Q

What is a gene expression

A

Allows a cell to carry out specialised functions

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15
Q

Give examples of differentiated cells

A

Sperm cells
Nerve cells
Red blood cells

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16
Q

What are stem cells

A

Unspecialised aromatic that can decide to make copies of themselves and/or differentiate into specialised cells

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17
Q

What are the different types of stem cells

A

Embryonic
Tissue (adult)

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18
Q

What is the difference between multi potent and pluripotent stem cells

A

Pluripotent can become any somatic cell in the body

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19
Q

Where do you find tissue stem cells

A

Bone marrow

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20
Q

Why can tissue stem cells not specialise into ALL types of cells

A

They are multi potent

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21
Q

What types of cells can tissue stem cells turn into (4)

A

Red blood cells
Phagocytes
Lymphocytes
Platelets

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22
Q

State two uses of stem cells

A

Corneal repairs
Regents ration of damaged skin

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23
Q

How is a cancerous tumour formed

A

When cancer cells divide excessively

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24
Q

What type of signals may fail to work on tumour

A

Regulatory signals

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25
Q

What is metastasis

A

When the cancerous cells get in the blood stream

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26
Q

What three structures make up a dna nucleotide

A

Phosphate
Deoxyribose sugar
Base

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27
Q

How does a nucleotide look

A

A Phosphate Circle top left connected by a line to a house shape of deoxyribose sugar on the 5 carbon which is connected to a rectangle base

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28
Q

In a nucleotide what are attached to the carbon 1base
Carbon 5 base

A

1 -base
5- phosphate

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29
Q

How are nucleotides held together

A

Though hydrogen bonds

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30
Q

State the stages involved in the DNA replication

A

DNA is unwound
hydrogen bonds between bases break to form two template strands
A primer bunds to the three end of the template DNA strand
DNA polymerase adds DNA nucleotides using complementary base pairing to the 3’end of the new DNA strand which is forming
DNA polymerase can only add DNA nucleotides in one direction
This means that the leading strand(with the 3’s at the end) is replicated continuously and the lagging strand (with 5 at the end) is replicated in fragments
Fragments of DNA are joined together by the enzyme Ligase

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31
Q

What are the requirements for DNA replication

A

Primers
DNA
ATP
Enzymes dna polymerase+ ligase
4 types of dna nucleotide

PDA4E

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32
Q

What is the name of the procedure used to amplify DNA

A

Polymerase
Chain reaction
Pcr

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33
Q

Requirements for DNA amplification

A

DNA primers,
DNA(as template),
a supply of 4nuclotides
heat tolerant DNA polymerase

PD4(HDP)

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34
Q

How are specific target sequences located

A

Primers

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35
Q

How is the DNA double helix separated into two strands

A

DNA is heated to 92-98 to seperate

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36
Q

How is the region of DNA replicated

A

Primers bind to target section of DNA end 3
nucleotides are added by DNA polymerase

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37
Q

Why are repeated cycles of cooling and heating used

A

amplify the target region of DNA

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38
Q

What happens when dna is heated between 92-98

A

Break the H bonds between bases and separated two stands

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39
Q

What happens when DNA is cooled between 50-65

A

Allows primers to bind to their complementary target sequences

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40
Q

What happens when the DNA is heated between70 and 80

A

Heat tolerant dna polymerase to replicate the region of dna

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41
Q

What are practical uses of pcr

A

Help solve crimes
Set the paternity suits
Test for viruses
Diagnose genetic disorders

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42
Q

What is meant by the term cell genotype

A

The genes that the cells have

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43
Q

What determines cell genotype

A

Alleles (DNA)

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44
Q

What what is meant by the cell phenotype

A

The physical appearance of a cell

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45
Q

What is meant by the term gene expression

A

Which genes are switched on and off

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46
Q

Are all genes expressed within a cell

A

No all of them

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47
Q

What controls gene expression

A

Nucleus

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48
Q

What influences gene expression

A

Mutagenic agents

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49
Q

Why are hr order of bases in DNA important

A

Order of amino acids

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50
Q

Why are the sequence of amino acids in a protein important

A

Because the different proteins made

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51
Q

State four bases found in RNA

A

Cytosine gamine adenine and uracil

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52
Q

Describe the shape of RNA

A

Single stranded and is composed of 4 nucleotides being phosphate- ribose sugar, 4 bases

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53
Q

What is the role of mRNA

A

Carries chemical messages from nucleus to ribosome

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54
Q

What is the role of rRNA

A

Ribosomal RNA binds to proteins to form a ribosome

55
Q

What is the role of tRNA

A

Carries a specific amino acid to a ribosome

56
Q

Where does transcription occur

A

DNA in the nucleus

57
Q

List the stages involved in transcription

A

RNA polymerase moved along the DNA unwinding the double helix and breaking the hydrogen bonds between the bases
RNA polymerase synthesis a primary transcript of RNA

58
Q

What is the difference between introns and exons

A

Introns are non-coding regions
Exons are coding regions

59
Q

Where do you find introns

A

DNA

60
Q

What is the difference between the primary and mature transcript of RNA

A

Primary -introns
Mature- exons

61
Q

Where does the mature transcript travel to

A

Leave the nucleus enters the cytoplasm and attaches to a ribosome

62
Q

What is a mRNA codon

A

Three bases of tRNA complementary to mRNA

63
Q

State the relationship between mRNA codons and tRNA anticodons

A

Complementary

64
Q

What is the specific role of tRNA

A

To transport specific amino acids to ribosome

65
Q

How do mRNA codons and tRNA anticodons translate the genetic code

A

They will bond and create a poly peptide

66
Q

What is a polypeptide

A

Lots of amino acids bonded together

67
Q

What are the stages in translation

A

Start codon
Each tRNA molecule transfers it’s specific amino acid to the mRNA attached to the ribosomes
The anticodons bond to codons via weak hydrogen bonds between complementary base pairs
Peptide bonds join the amino acids together forming a polypeptide
Each tRNA then leaves the ribosome as the poly peptide is formed
Stop codon

68
Q

What is alternative rna splicing

A

Alternative rna splicing allows the same primary transcript to form different mature mRNA transctips
The mature mRNA transcript produced depends on which exons are retained each mature transcripts will have a different combo of exons spliced together

69
Q

Define mutations

A

A change in the DNA of an organism

70
Q

Name 2 mutagenic agents

A

Radioactivity
Chemicals

71
Q

What impacts do mutations have on

A

on protein or an altered protein being synthesised

72
Q

Define genetic disorder

A

Conditions or disease Comes directly from someone’s genes

73
Q

What is gene mutation (examples)

A

Involves a change in the DNA nucleotide sequence
DELETIOnN
INSERTION
GENE MUTATIONS
SUBSTITUTION

74
Q

Describe substitution and effects

A

Can cause sickle cell disease
Changes 1 amino acid

75
Q

Describe insertion

A

Causes tay sachs disease
Changes all amino acids after

76
Q

Describe deletion

A

Can cause cystic fibrosis
Changes all amino acids after the base

77
Q

What is a missense mutation

A

This results in one amino acid being changed for another

78
Q

what is a nonsense mutation (non-stop)

A

This means that there is a stop codon being produced prematurely resulting in a short protein

79
Q

What is a splice-site mutation

A

This results on some introns being retained and/or some exons not being included in the mature RNA transcript

80
Q

Which point mutations lead to frameshift and missense mutations

A

Franeshift- insertion+deletion FDI
Missense- substitution (ms)

81
Q

Describe Translocation

A

A section of another chromosome is added to a chromosome but its homologous partner
ABC DEF GHI JKL
ABC JKL GHI DEF

82
Q

describe inversion

A

The section of chromosome is in reverse
ABC DEF
CBA FED

83
Q

Describe deletion

A

Involves removing a section of a chromosome
ABC DEF
A C DEF

84
Q

Describe duplication

A

A section of chromosomes from the homologous partner is added into chromosome
ABC DEF
ABBC DEF

85
Q

What is the human genomics

A

The entire hereditary information encoded in DNA

86
Q

What is genome sequencing

A

The sequence of nucleotides bases can be determined for individual genes

87
Q

Why is the genome sequencing useful

A

This allows us to work out the sequence of amino acids for individual proteins. This allows us to detect mutations

88
Q

What is bioinformatics

A

To compare sequence data computer and statistics analyses are required

89
Q

What is a personal genome sequence

A

Own personal genome map or sequence

90
Q

What is a personalised medicine

A

An individuals personal genome sequence can be used to select the most effective drugs and dosage to treat their disease

91
Q

Describe pharmacogenetics

A

The study of how peoples genetic makeup affects their responses to drugs

92
Q

What are primers

A

Single stranded sequences of nucleotides which are complementary to a target sequence

93
Q

PCR is a technique used for what?

A

amplification of DNA in vitro

94
Q

Define metabolism

A

The chemical reactions in the body
is cells that change food into energy

95
Q

What is an anabolic pathway

A

Takes energy
Makes bonds
Synthesis

96
Q

What is a catabolic pathway

A

Gives energy
Break bonds
Degradation

97
Q

Define rate of chemical reaction

A

The speed at which the reaction is happening

98
Q

What is the activation energy

A

The minimal energy required that is needed to form a product

99
Q

What s a transition state

A

The point where there is enough energy to start the reaction but the reaction hasn’t started yet

100
Q

Three facts about catalysts

A

Speed up chemical reaction
Doesn’t get used up in reaction
Lowers Ea

101
Q

State the importance of the enzymes active site

A

Specific to substrate

102
Q

What is meant by the term specific in relation to enzymes

A

Will only match a certain substrate

103
Q

Describe how the enzyme becomes free to repeat the reaction again

A

Products leave enzymes when reaction is done e

104
Q

What is meant by the term induced fit

A

When an enzyme binds to the substrate, the active site changes shape to fit better

105
Q

State three ways that enzymes can control metabolic pathways

A

Inhibitors- competitive, non competitive and feedback inhibition

106
Q

What is an inhibitor

A

A molecule that decreases the rate of an enzyme reaction

107
Q

What is a competitive inhibitor

A

They bind to the active site and prevents the substrate from binding

108
Q

How can a competitive inhibition be reversed

A

You can increase the concentration of substrate

109
Q

Three facts about non-competative

A

They bind to another side of enzyme
Changes shape of active site
Can’t be reversed

110
Q

Describe feedback inhibition

A

Feedback inhibition occurs when the en product in he metabolic pathway reaches a critical concentration
The end product the inhibits an earlier enzyme and blocks the pathway
This blockage of the pathway prevents further synthesis of end products

111
Q

What is cellular respiration

A

Breakdown of glucose to produce atp

112
Q

Name the molecules that atp is made from

A

Adenosine diphosphate +pi

113
Q

Why is ATP so important

A

It provides energy for cellular processes

114
Q

Why don’t humans need a vast store f ATP

A

It can be easily made

115
Q

Three examples of processes that cell requires ATP

A

Mitosis
DNA replication
Active transport

116
Q

Name 3 stages involved In cellular respiration

A

Glycolysis
Citric acid cycle
Electron transport train

117
Q

What does dehydrogenase do

A

Takes H ions and electrons from some compounds in the energy pay off phase

118
Q

List the steps involved in glycolysis

A

Glucose is the breakdown of glucose into pyruvate in the cytoplasm
The first part of glycolysis is an energy investment phase ATP

119
Q

Describe Citric acid cycle

A

Occurs in the matrix of mitochondrion
Pyruvate is broken down to an acetyl group this combines with coenzyme A to from ace

120
Q

What does ATP synthase do

A

Catalysed the formation of ATP from ADP +Pi

121
Q

Describe the mitochondrion structure

A

Outer membrane
Matrix
Cristoe

122
Q

Where does the energy come from for a repeated store of energy for repeated muscle contraction

A

Glucose stored as glycogen

123
Q

What happens during a strenuous muscular activity

A

Not enough oxygen to support electron transport system

124
Q

In anaerobic respiration what is the only stage that can occur

A

Glycolysis

125
Q

When does the oxygen debt get repaid

A

When the exercise is complete
When atp is provided lactate back into pyruvate and glucose in the liver

126
Q

What are the two types of skeletal muscle fibres

A

Slow and fast twitch

127
Q

What is the storage in fast and slow twitch

A

Fast twitch fats
Slow twitch glycogen

128
Q

Respiratory pathways to make atp in slow and fast twitch

A

Slow aerobic
Fast glycolysis

129
Q

What is myoglobin made of

A

Protein

130
Q

What is the purpose of myoglobin

A

To carry oxygen

131
Q

Describe the energy investment phase

A

Involves the investment of 2 atp
The job of these atp is to provide phosphate for the phosphorylation of glucose and intermediates

132
Q

Describe energy pay off phase

A

4 atp, net gain of 2 atp
Dehydrogenase enzyme extracts hydrogen and electrons from intermediates passing them to nad forming nadh

133
Q

Describe citric acid cycle (3)

A

Only occur if oxygen is present
Occurs in matrix of mitochondria
Controlled by enzymes