Gene mutations and cancer Flashcards

1
Q

when are gene mutations likely to occur

A

during interphase

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2
Q

what can influence the frequency of gene mutations

A

mutagenic agents

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3
Q

examples of mutagenic agents

A

ionising radiation
UV light, x-rays

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4
Q

what is a carcinogen

A

chemicals that interfere with the structure of DNA and transcription

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5
Q

wjat are the 5 types of gene mutation

A

1.Addition
2.Deletion
3.Substitution
4.Inversion
5.Duplication
6.Translocation of bases

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6
Q

benign tumour

A

grow at a slow rate
enclosed in a membrane
don’t spread

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7
Q

what is it called when a tumour spreads

A

metastasis

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8
Q

what is an oncogene

A

mutated and permenantly activated version of a proto-onco-gene
so cell division is always stimulated

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9
Q

how can abnormal methylation cause cancer

A

methylation of a tumoir surpressor gene means the transcription factor can’t bind to it and initiate transcription
so the specific protein is not produced which initiated apoptosis
so cells can divide and mutate uncontrollably

or the opposite happens with oncogenes

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10
Q

what is oestrogen and how can it cause cancer

A

lipid-soluble hormone
can enter cells and bind to a transcription factor which changes shape so it can bind to proto-oncogenes and activate them

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11
Q

totipotent cells

A

can differentiate into any type of cell
found in embryos

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12
Q

pluripotent cells

A

can differentiate into most types of cell
found in embryos
used in research

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13
Q

multipotent cells

A

found in mature adult bone marrow
can differentiate into a few types of cell

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14
Q

how are induced pluripotent cells formed

A

formed from specialised cells
the genes that are switched off to make the cell unipotent are switched back on using transcription factors

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15
Q

epigenetics meaning

A

heritable changes in gene functionw ithout changing the DNA base sequence

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16
Q

how does decreased acetylation inhibit transcription

A

makes the histones more positive so DNA winds round them more tightly

17
Q

how does siRNA inhibit translation

A

binds to complementary mRNA to make it double stranded
so when it leaves the cell it is recognised as abnormal and destroyed

18
Q

why can the genome not be easily translated into the proteome

A

due to the presence of non-coding DNA

19
Q

what are 3 ways to isolate DNA fragments

A

reverse transcriptase
gene machine
restriction endonucleases

20
Q

hiw does reverse transcriptase produce DNA fragments

A

a cell that produces the protein of interest is selected

reverse transcriptase joins DNA nucleotides to the complementary mRNA nucleotides

to make the single-stranded cDNA
DNA polymerase makes the cDNA double-stranded

this is intron-free as it has been made ffrom mRNA

21
Q

describe how a gene machine makes DNA fragments

A

the protein of interest is analysed to find the amino acid sequence then the mRNA sequence

the machine produces small sections of single-stranded overlapping DNA called oligonucleotides

PCR amplifies the DNA and makes it double-stranded

22
Q

describe how restriction endonucleases create a DNA fragment

A

they cut up DNA at a specific, complementary recognition sequence

to create either a blunt end or sticky end

23
Q

describe how DNA is cloned in vitro

A

by PCR

temperature is increased to 95 degrees C to break H bonds and make DNA single-stranded

temperature is decreased so primers can attach

temperature is increased to 72 degrees so Taq polymerase can synthesis a new DNA strand

24
Q

describe how DNA is amplified in vivo

A

restriction endonucleases cut DNA to create sticky ends

a promotor and terminator reigon are added so RNA polymerase knows when to start/stop transcription

restriction endonucleases cut the plasmid vector

the same restriction endonucleases cut the DNA so sticky ends are complementary

DNA ligase sticks the DNA in to create recombinant DNA

25
what are three issues that can occur when creating recombinant DNA
1.The recombinant plasmid doesn’t get inside the cell 2.The plasmid re-joins before the DNA fragment entered 3.The DNA fragment sticks to itself, rather than inserting into the plasmid
26
what are 3 types of marker gene
Antibiotic resistance genes Genes coding for fluorescent proteins Genes coding for enzymes
27
describe how antibiotic resistance/ fluorescence/ specific enzyme genes are used as markers
bacteria are grown on agar plates containing antibiotics the ones that survive must contain a plasmid DNA fragment is inserted into the plasmid in a marker gene so that gene is no longer expressed so these bacteria won't be resistant to another antibiotic or won't be fluorescent or won't produce colour-changing enzyme
28
what is a DNA probe
short, single-stranded section of DNA that can be labelled radioactively or fluorescently to locate specific genes
29
how are DNA probes used
DNA is heated to make it single-stranded probes complementary to the gene that you want to identify are added DNA identified using x-ray/ UV
30
what is genetic fingerprinting
the analysis of VNTRs
31
what are the steps of genetic fingerprinting
collection extraction digestion separation hybridisation development analysis
32
describe collection and extraction in genetic fingerprinting
DNA is collected and ectracte by cell fractionation and ultracentrifugation PCR may be used to amplify small samples
33
describe digestion in genetic fingerprinting
restriction endonucleases cut DNA into smaller fragments then enzymes are added which cut close to the desired VNTRs
34
describe separation in genetic fingerprinting
samples are loaded into agar wells gel is placed in a buffer liquid electrical charge is applied negative DNA moves towards the positive end of the gel smaller pieces of DNA can move faster to separate different lengths of VNTRs alkali is added to separate strands of DNA
35
describe hybridisation in genetic fingerprinting
mix DNA probes with VNTRs on the agar probes will hybridise (bind) to VNTRs
36
describe development in genetic fingerprinting
VNTRs are transferred to a nylon sheet x-rays/ UV light is used to visualise the position of the probes