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unit 8 Flashcards

KILL YOURSELF FATTY (72 cards)

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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

ne 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

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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7
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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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

Tumour

A

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

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10
Q

Translocation of
bases
mutation

A

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

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11
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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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

Cancer

A

Malignant tumours that form
due to uncontrolled cell division

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14
Q

Malignant
tumour

A

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

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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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15
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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16
Q

Tumour
suppressor genes

A

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

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17
Q

Epigenetics

A

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

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18
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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19
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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20
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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21
Q

Stem cell

A

undifferentiated cells that can
continually divide and become
specialised

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22
Q

Totipotent
stem cell

A

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

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23
Q

Multipotent
stem cell

A

can differentiate into a limited
number of cells
found in mature mammals e.g
in bone marrow

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23
Pluripotent stem cell
can differentiate into almost any body cell occur in embryos
23
Unipotent stem cell
can differentiate into one type of cell found in mature mammals
24
Induced pluripotent stem cell
produced from adult somatic cells using protein transcriptional factors overcomes ethical issues of using embryonic stem cells
25
Transcriptional factor
proteins that can bind to different base sequences on DNA initiate transcription of genes
26
What is a vector?
a DNA molecule used as a vehicle to carry a DNA fragment e.g. plasmids/viruses
27
siRNA
small interfering RNA destroys mRNA molecules to prevent translation
27
RNA interference
inhibition of the translation of mRNA the mRNA gets destroyed so it cannot be translated
28
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
29
Recombinant DNA technology
combining different organisms’ DNA enable scientists to manipulate and alter genes to improve industrial processes and medical treatment
30
Sequencing projects
Reading the full genome of organisms provides opportunities to screen DNA to identify potential medical problems
31
How can you create a DNA fragment?
Reverse transcription with reverse transcriptase restriction endonucleases gene machine
32
Gene machine
creates DNA fragments using a computerised machine
33
Reverse transcriptase
An enzyme that makes cDNA single-stranded copies of DNA from mRNA
34
Restriction endonulceases
Enzymes that cut up DNA to create fragments cut at specific recognition/restriction sequences results in sticky ends
35
In vivo cloning
Creating DNA fragments using bacteria involves restriction endonulcease enzymes
36
In vitro cloning
Using PCR to create a large number of copies of a DNA fragment
36
Uses of PCR
Used widely in gene technology to make large numbers of copies of DNA fragments e.g. forensics, genotyping, cloning, paternity tests, microarray
37
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)
38
Uses of genetic fingerprinting
Forensic science medical diagnosis plant/animal breeding paternity tests
38
What is gel electrophoresis
Separation of DNA samples using an electrical voltage different lengths of DNA VNTRs are separated
39
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
40
What is genetic screening?
Testing DNA to identify the presence of alleles that can cause/increase the risk of developing a disease
41
What is genetic counselling?
a type of social work giving people advice and information following the screening of disease causing alleles
42
What is cDNA?
omplementary, singlestranded DNA strands created by reverse transcriptase
43
What are the advantages of using the gene machine?
Very quick accurate create intron-free DNA
44
What are the advantages of using reverse transcription?
Creates intron-free cDNA
45
What are the advantages of using restriction endonculeases?
Creates sticky ends on DNA to enable the DNA fragments to join with complementary base pairs
46
Oligonucleotides
Short DNA molecules used in gene machines to create DNA fragments
47
Sticky ends
Exposed staggered ends of bases palindromic base sequences created by restriction endonuclease enzymes
48
Palindromic sequence
sequences of bases that read the same forwards as they do backwards
49
What are the two methods to amplify DNA?
In vivo in vitro (PCR)
49
Blunt end
When a restriction endonuclease cuts the DNA double-strand in the same position there is no overhang of bases
50
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
50
Plasmid
a small loop of bacterial DNA contains only a few genes contains the genes for antibiotic resistance
50
Promoter region
a sequence of DNA that is the binding site for RNA polymerase to enable transcription to occur
51
Recombinant plasmid
a small loop of bacterial DNA with the DNA from another organism inserted into it
51
Transformation
the process of getting a plasmid to re-enter a bacterium involves calcium ions and temperature shocking
52
How can transformed cells be identified?
using marker genes antibiotic resistance genes genes coding for fluorescent proteins genes coding for enzymes
52
What is a marker gene?
genes on the plasmid used to identify which bacteria successfully took up the recombinant plasmid
53
DNA probe
short, single-stranded pieces of DNA labelled radioactively or fluorescently so that they can be identified
54
Personalised medicine
screening for the presence of particular alleles to select medicines and personalise health advice based on your genotype
54
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
55
VNTRs
variable number tandem repeats sequences of bases in introns unique to each
56
How is DNA extracted from cells so that it can be examined?
cell fractionation and ultracentrifugation
56
How can DNA samples be collected?
From blood, body cells or hair follicles
57
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
58
Why can the genome not be easily translated into the proteome in complex organisms?
due to the presence of noncoding DNA and regulatory genes
59
what is the role of DNA ligase in making recombinant DNA
used to stick the DNA fragment to create recombinant DNA

miss estruch cards (8 decks)

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