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Epigenetics meaning

Heritable changes in gene function whiteout changing the dna base sequence


Histone deacetylation meaning

Histone tell chromatic to compress DNA
Tightening of chromatin around histone, genetic material not accessible


Cancer cause

Switch off genes associated with rumour detection
Histone modification and deregulation of proteins that bind to DNA


What is RNAi (microRNA/miRNA/siRNA)

Mirna- complementary sequence to transcribed mrna- Upon binding of complex protein, Attached to target section of mRNA, blocking translation and speed up mRNA breakdown

Sirna interferes with translation by binding to mRNA and cleaving it. Prevents translation in the cytoplasm to produce polypeptide. Gene it codes for is not expressed

Dsrna-dicer-sirna-risc-mRNA change


What is siRNA

Short, double stranded fragments of RNA which binds and cleaves mRNA through a RISC. This is the same dicer processing enzyme and the risc complex formed in the mirna path because mirna and sirna share the same machinery after they’re synthesised


What are benign rumours

Local/cannot spread
Pose no direct health risk
Only require medical intervention (surgery)
Cannot spread through the bloodstream or lymphatic system but can put pressure on organs


What are malignant tumours

Metastasis(tumour cells can spread)
Basis of cancer/can cause cancer
Can spread/ cells break off and entered blood stream/lymphatic system
Can extend to bones/liver


Difference between benign/malignant?

Slow v fast growth
Capsule v lack of capsule
Lack of Necrosis v necrosis
Vessel invasion?


Examples of how cancer can be caused

Mutation/epigenetic changes to
Oncogenes becoming activated and tumour suppressor genes regulated/inactivated the cell cycle
Sex hormones(breast/prostate) promote cell division-
Breast cancer- variants of BRCA1 and BRCA2 gene-high oestrogen/progesterone found
Mutation inactivates tumour suppressor gene
Cells proliferate(divide)
Mutation inactivated DNA repair gene
Mutation of proto oncogene creates oncogene
Mutation inactivates several more tumour suppressor genes


Describe the steps of sanger sequencing

Mix copies of your target DNA to be sequenced with radioactive nucleotides
These nucleotides also prevent further DNA lengthening, resulting in a mixture of different sequence DNA strands complementary to the template DNA
Run the DNA mixture on a gel to separate the different strands by size
Infer their sequence based on the results: the radioactive reading of the different bases alongside the sequence of the strands(smaller strands run further down the gel while larger strands stay towards the top, where they were loaded)


What are restriction endonucleases and how can dna be cloned?

Some microoorganisms have evolved enzymes that invade a host and chop its DNA up at specific sequences

DNA is denatured so 2 strands break apart, primers attach to the strands, DNA polymerase bonds to the primers and initiated the assembly of new DNA


What is in Vivo cloning

Involves stimulating bacteria to take up DNA by inserting it in plasmids
Plasmids also have antibiotic resistance gene, if taken up will enable growth on medium containing that antibiotic allows selection of plasmid which have taken up the DNA

Host cells are grown on a larger scale


In vivo advantages

- treat type 1 diabetes
- new ethical, financial and social issues resolved- social issues include genetic modification of human embryos- three partner babies,gm foods
- in gene based medicines for people who want to extort new technology for their immediate profit, results in a huge burden of treatment costs to patients or NHS


What are totipotent (totally powerful) stem cells

Can differentiate into any kind of cell


Unipotent cells

Can only propagate into one type of cell


What are cardiomyocytes

Contract to allow hearts pumping function, derived through multimedia (creates all other types of muscle including smooth or skeletal)


Humans and stem cells

Embryos possess

totipotent stem cells are cells which upon differentiation and development into the adult organism do not occur
Adults only have multipotent stem cells which have a limited range of cells they can change into
Deafness, blindness and infertility can be treated
Transcription factors can be used to grow different types of cell
Cardiomyocytes contract to enable hearts pumping function


Uses of genetic fingerprinting

Criminology- crime scenes
Paternity tests


Genetic fingerprinting technique

DNA undergoes PCR then cleavage at multiple sites with restriction endonucleases
The resulting many small fragments are tagged using a radioactive molecule
They’re separated using gel electrophoresis and viewed using a developed photographic film


What is a mutation/a silent mutation/missense mutation?

a random occurrence during dna replication and the rate of mutation is influenced by external factors such as UV radiation

Silent- degenerate code- polypeptide unchanged

Substitution in an intron is also a silent mutation

Nonsense- deletion/insertion- frameshift- early stop codon- truncated protein which may malfunction

Missense- substitution changes aa encoded. Doesn’t necessarily impact the overall protein, but may alter binding site and therefore it’s activity


What is meant by haploid

Has one set of chromosomes
Diploid is two sets of chromosomes


How does meiosis achieve genetic diversity

Genetic recombination by crossing over

Independent assortment of homologous chromosomes- in meiosis 1, anaphase 1,


Define chromosome non disjunction

Not assigning the expected chromosome or chromatid during meiosis/ results in a cell with a different number of chromosomes


Describe the structure of haemoglobin

- 4 protein/polypeptide chains
- 2 alpha chains and 2 beta chains
- each chain has haem group
- each haem group has one iron ion attached
- 4 oxygen bound=saturated haemoglobin

Haemoglobin fetches in lungs
Haemoglobin spits in respiring tissues


Role of valves in the heart

Av valves- Ensure no blood flows back into Syria from the ventricles

Semilunar valves- ensure no blood flows from the ventricles into the atria


Unit to measure stroke volume

Cm3 or ml


Stages of cell cycle

Prophase-chromosomes condense and disperse and are visible, nuclear envelope breaks down
Metaphase- microtubules connect to centromeres, chromosomes are lined at the equator of the cell by spindle fibres
Anaphase- chromatids split at their centromeres and are pulled towards opposite poles of the cell by shorterning spindle fibres
Telophase- nuclear envelope reforms around two new nuclei/ chromosomes decondense and become indistinguishable and spindle fibres spread out
Cytokinesis- cytoplasm of parent cell divides to complete cell division resulting in two new offspring cells


What is binary fission

Duplication of cells dna
No of copies of plasmids in each new cell is VARIABLE
Remember that bacteria do have a cell wall