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MISS ESTRUCH FLASHCARDS > TOPIC 8 : THE CONTROL OF GENE EXPRESSION > Flashcards

TOPIC 8 : THE CONTROL OF GENE EXPRESSION Flashcards

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1
Q

Gene mutation

A

change in base sequence of
DNA
occurs during DNA replication
includes addition, deletion,
substitution, inversion,
duplication and translocation
of bases

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2
Q

Mutagenic
agents

A

chemical or radiation that
increases mutation rate

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3
Q

Addition
mutation

A

One extra base is added to the
DNA sequence
causes all subsequent codons
to be altered (frameshift)

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4
Q

Deletion
mutation

A

One base is deleted in the DNA
sequence.
causes all subsequent codons
to be altered (frameshift)

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5
Q

Substitution
mutation

A

One base in the DNA sequence
is changed
no frameshift
only one codon changes
may have no impact due to
degenerate genetic code

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6
Q

Frameshift

A

A change in all the codons after
the point of mutation
each base shifts left or right one
position

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7
Q

Inversion
mutation

A

A section of bases detach from
the DNA sequence and re-join
inverted
results in different amino acids
being coded for in this region

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8
Q

Duplication
mutation

A

One base is duplicated at least
once in the sequence
causes a frameshift to the right

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9
Q

Translocation of
bases
mutation

A

A section of bases on one
chromosome detaches and
attaches to a different
chromosome

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10
Q

Non-functioning
protein

A

a protein with a different
primary and tertiary structure
therefore the shape is changed
it cannot carry out its function

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11
Q

Tumour

A

a mass of cells as a result of
uncontrolled cell division
can be benign or malignant

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12
Q

Benign
tumour

A

non-cancerous tumour
grows large but at a slow rate
produce adhesive and are
surrounded by a capsule so they
cannot spread

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13
Q

Malignant
tumour

A

cancerous tumour
grows rapidly
can become unspecialised
can metastasise
grow projections
develop own blood supply

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14
Q

Cancer

A

Malignant tumours that form
due to uncontrolled cell division

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15
Q

Metastasis

A

cancer cells breaking off from the
tumour
spreading to form secondary
tumours in different tissues or
organs

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16
Q

Oncogene

A

a mutated version of a protooncogene
results in constant initiation of
DNA replication and mitotic cell
division
causes tumour formation

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17
Q

Tumour
suppressor genes

A

genes that produce proteins to
slow down cell division and
cause cell death if DNA copying
errors are detected

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18
Q

Epigenetics

A

the heritable change in gene
function
without changing the DNA base
sequence
caused by changes in the
environment
can inhibit transcription

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19
Q

Hypermethylation

A

an increased number of methyl
groups attached to a gene
results in the gene being
deactivated
results in cancer if happens to a
tumour suppressor gene

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20
Q

Methylation
of DNA

A

inhibits transcription
methyl groups attach to the
cytosine base on DNA
prevents transcriptional factors
from binding
condenses the DNA-histone
complex

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21
Q

How can oestrogen
increase the risk of
breast cancer?

A

Oestrogen is a steroid hormone
it binds to a receptor site on a
transcriptional factor
causing a change in shape
so it can bind to the DNA to
initiate transcription
can result in uncontrolled cell
division

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22
Q

Stem cell

A

undifferentiated cells that can
continually divide and become
specialised

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23
Q

Totipotent
stem cell

A

can differentiate into any body
cell
occur for a limited time in early
mammalian embryos

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24
Q

Pluripotent
stem cell

A

can differentiate into almost
any body cell
occur in embryos

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25
Multipotent stem cell
can differentiate into a limited number of cells found in mature mammals e.g in bone marrow
26
Unipotent stem cell
can differentiate into one type of cell found in mature mammals
27
Induced pluripotent stem cell
produced from adult somatic cells using protein transcriptional factors overcomes ethical issues of using embryonic stem cells
28
Transcriptional factor
proteins that can bind to different base sequences on DNA initiate transcription of genes
29
What is a vector?
a DNA molecule used as a vehicle to carry a DNA fragment e.g. plasmids/viruses
30
Acetylation of histones
Decreased acetylation inhibits transcription removing acetyl groups makes the histones more positive this attracts the negative phosphate group on DNA making it harder for the transcriptional factors to bind
31
RNA interference
inhibition of the translation of mRNA the mRNA gets destroyed so it cannot be translated
32
siRNA
small interfering RNA destroys mRNA molecules to prevent translation
33
Recombinant DNA technology
combining different organisms’ DNA enable scientists to manipulate and alter genes to improve industrial processes and medical treatment
34
Sequencing projects
Reading the full genome of organisms provides opportunities to screen DNA to identify potential medical problems
35
How can you create a DNA fragment?
Reverse transcription with reverse transcriptase restriction endonucleases gene machine
36
Gene machine
creates DNA fragments using a computerised machine
37
Reverse transcriptase
An enzyme that makes cDNA single-stranded copies of DNA from mRNA
38
Restriction endonucleases
Enzymes that cut up DNA to create fragments cut at specific recognition/restriction sequences results in sticky ends
39
In vivo cloning
Creating DNA fragments using bacteria involves restriction endonulcease enzymes
40
In vitro cloning
Using PCR to create a large number of copies of a DNA fragment
41
Uses of PCR
Used widely in gene technology to make large numbers of copies of DNA fragments e.g. forensics, genotyping, cloning, paternity tests, microarrays
42
Describe the PCR process
increase temperature to 95C to break hydrogen bonds & split DNA into single strands temperature is decreased to 55C so primers can attach DNA polymerase joins complementary nucleotides & makes a new strand temperature increased to 72C (optimum for Taq DNA polymerase)
43
Uses of genetic fingerprinting
Forensic science medical diagnosis plant/animal breeding paternity tests
44
What is gel electrophoresis
Separation of DNA samples using an electrical voltage different lengths of DNA VNTRs are separated
45
Why does the DNA move in gel electrophoresis?
DNA is negatively charged and moves towards the positive end of the gel the shorter the piece of DNA, the faster and further it moves
46
What is genetic screening?
Testing DNA to identify the presence of alleles that can cause/increase the risk of developing a disease
47
What is genetic counselling?
a type of social work giving people advice and information following the screening of disease causing alleles
48
What is cDNA?
Complementary, singlestranded DNA strands created by reverse transcriptase
49
What are the advantages of using the gene machine?
Very quick accurate create intron-free DNA
50
What are the advantages of using reverse transcription?
Creates intron-free cDNA
51
What are the advantages of using restriction endonculeases?
Creates sticky ends on DNA to enable the DNA fragments to join with complementary base pairs
52
Oligonucleotides
Short DNA molecules used in gene machines to create DNA fragments
53
Sticky ends
Exposed staggered ends of bases palindromic base sequences created by restriction endonuclease enzymes
54
Palindromic sequence
sequences of bases that read the same forwards as they do backwards
55
Blunt end
When a restriction endonuclease cuts the DNA double-strand in the same position there is no overhang of bases
56
What are the two methods to amplify DNA?
In vivo in vitro (PCR)
57
Promoter region
a sequence of DNA that is the binding site for RNA polymerase to enable transcription to occur
58
Terminator region
added at the end of the gene it causes RNA polymerase to detach and stop transcription to ensure one gene is copied into mRNA at a time
59
Plasmid
a small loop of bacterial DNA contains only a few genes contains the genes for antibiotic resistance
60
Recombinant plasmid
a small loop of bacterial DNA with the DNA from another organism inserted into it
61
Transformation
the process of getting a plasmid to re-enter a bacterium involves calcium ions and temperature shocking
62
How can transformed cells be identified?
using marker genes antibiotic resistance genes genes coding for fluorescent proteins genes coding for enzymes
63
What is a marker gene?
genes on the plasmid used to identify which bacteria successfully took up the recombinant plasmid
64
DNA probe
short, single-stranded pieces of DNA labelled radioactively or fluorescently so that they can be identified
65
DNA hybridisation
DNA is heated to separate the double helix into single strands it is then mixed with complementary sequences of single-stranded DNA it is then cooled so complementary strands will anneal
66
Personalised medicine
screening for the presence of particular alleles to select medicines and personalise health advice based on your genotype
67
VNTRs
variable number tandem repeats sequences of bases in introns unique to each person
68
How can DNA samples be collected?
From blood, body cells or hair follicles
69
How is DNA extracted from cells so that it can be examined?
cell fractionation and ultracentrifugation
70
How is DNA digested in genetic fingerprinting?
Restriction endonucleases are added to cut the DNA into smaller fragments enzymes that cut close to the target VNTRs are added
71
Why can the genome not be easily translated into the proteome in complex organisms?
due to the presence of noncoding DNA and regulatory genes
72
What is the role of DNA ligase in making recombinant DNA?
used to stick the DNA fragment to create recombinant DNA
73
Outline the process to decrease blood glucose levels
Blood glucose levels rise Detected by B cells of the pancreas Produces insulin Increased cellular respiration Conversion of glucose to glucagon Convert glucose to fat Absorb glucose into cells Blood glucose levels fall
74
Outline the process by which blood glucose levels increase
Blood glucose levels fall Defected by the Alpha cells of the pancreas Produce glucagon Conversion of glucagon to glucose Conversion of amino acids to glucose Uncontrolled quantity of glucose enters from the intestine Blood glucose levels rise
75
Define type 1 diabetes
Diabetes mellitus- insulin dependant diabetes Happen suddenly in childhood Body doesn’t produce its own insulin as the immune system attacks the insulin, producing beta cells
76
Define type 2 diabetes
Insulin independent Occurs <40 Glycoprotein receptors loose their responsiveness to insulin/ inadequate supply of insulin from the pancreas

MISS ESTRUCH FLASHCARDS (8 decks)

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