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Define genome and proteome
Genome - entire set of genes in an organism
Proteome - Full range of proteins a cell can produce
Why is the genetic code degenerate?
Each amino acid is coded for by more than 1 codon
When do mutations occur and how (give examples)?
Occur randomly
From mutagenic agents like ionising radition, carcinogen and carcinogenic chemicals like tobacoo
What is a weakness of mutations?
Can be passed onto next generation and may change the codon which can change the amino acid leading to faulty protein which leads to disease
What effct can mutations have?
No effect
Positive effect - may change phenotype which help organism adapt to environment which increase survival.
What are the 6 types of mutations and define them
Substitution - One or more bases are exchanges for another
Deletion - One or more bases are removed from DNA sequence
Addition - One or more bases are added to the DNA base sequence
Duplication - One or more bases are duplicated
Inversion - Sequence of bases is reversed
Translocation - Sequence of bases is moved from one location to another
What 2 types of mutations are likelt to result in no amino acid change and why?
Inversion and subsitiuion
Bc only one base is changed and genetic code is degenerate
What 2 mutations are likley to result in change in amino acid and wht can it lead to ?
Deletion and Addition
Bc they can cause frame shift mutation
What is frame shift mutation and what is it caused by?
Change in number of bases in the DNA code causing a shift to all base triplets that follows so all codons change and DNA code will be transcribed differently which results in diff protein structure
Caused by addition or duplication mutation
What are stem cells?
Unspecialised cells that can differentiate into a range of types of cells
What are the 4 types of stem cells in order of differentiating ability?
Totipotent
Pluripotent
Multipotent
Unipotent
What is totipotent and give soem features?
Cells that can differentiate into any type of cell and extra embryionic cells
Found early embryo stage (day 3-4)
Most unspecialised type of stem cell
What are pluripotent stem cells and give features?
Cell that can differentiate into any tissue in the body but not extra embryonic cell
occur in early embryo
can be used to treat human disorders
What are multipotent stem cells and give features
Differentiate into a limited number of cells
Found in mature animals
What are unipotent stem cells and give some features and an example of cardiac stem cells
Cells that can differentiate into one type of cell
Found in mature animals
cardiac stem cells divide to dorm cardiomyocytes
What is a use of pluripotent stem cells and give an example?
Repair damaged tissue
B cells in pancreas can treat type 1 diabted
What can pluripotent stem cells be created from
unipotent
What are 2 characteristics of stem cells?
Keep dividing
Undifferentiated
Suggest how growth of new blood vessels into damaged heart tissue can increase rate of tissue repair [3]
greater blood supply
More oxygen for respiration
brings amino acids for protein syntheisis
How does substitution mutation change the structure of polypeptitde? [3]
change in sequence of amino acids
change in hydrogen bonds
alter tertiary structure
What are 3 uses of stem cells?
Medical therapies like bone marrow transplant
Drug testtign
Research
Give 3 differences and 2 similarities of malignant and benign tumours
Differences:
Malignant: cancerous, spreads to other tissue, grow faster
Benign: non- cancerous, doesn’t spread, grows slower
Similarities:
Both have mistakes in DNA
Have irregular shaped cells
What are tumour supressor genes?
Genes hat slwo division, repair mistakes in DNA
Explain how increase in methylation can lead to cancer? [3]
Methyl group added to both copied of tumour supressor genes
Transcription of tumour suppressor gene is inhibited
Leading to uncontrolled cell division
WHat is increased methylation and decreased acetylation and how can it affect the genome?
Increased Methylation = adding methyl groups to DNA , this attracts proteins transcription factors cant access DNA
Decreased Acetylation = removing acetyl groups, increases positive charges on histone so they bind to DNA more tightly transcription factors cant access DNA
What are induced pluripotent stem cells?
Turning unipotent cells into pluripotent cells by activating deactivated genes using transcription factors
Describe how alterations to tumour suppressor genes can lead to the development of tumours. [3]
Methylation of TSG
Mutation in TSG
TSG are not expressed
uncontrollable cell division;
How can oestrogen increase risk of cancer?
Can stimulate some breast cells to divide and replicate so more cell divisions, increase mutations so increased change of becoming cancerous
How does oestrogen initiate transcription?
Oestrogen enters cell by facilitated diffuson and binds to receptor on transcription factor
TF change shape slightly and this changes in shape makes it complementary and able to bind to the DNA to initiate transcription