Gene expression Flashcards
What is a genetic mutation?
- Alteration in a base in a base sequence
- Occurs during DNA replication during interphase
Explain the effect of genetic mutation
- Change in the base sequence = change in the amino acid sequence = modified 3’
- Bonds form in different places = different shape = non-functioning protein
- Can also result in cancer
Examples of mutagenic agents
- Radiation: Alpha/Beta/Gamma/X-ray can damage and disrupt DNA structure
- Carcinogen: Tobacco smoke/ Mustard gas/ Peroxide chemicals that can interfere with DNA structure + transcription
How many types of genetic mutations?
6 types:
1) Addition
2) Deletion
3) Substitution
4) Inversion
5) Duplication
6) Translocation
Describe addition mutation
- Extra base added
- Causes frameshift to right
- Altered codons = code for multiple different amino acids = different amino acid sequence = non-functional protein
Describe deletion mutation
- Deletion of a base
- Causes frameshift to left
- Altered codons = code for different amino acid sequence = non-functional protein
Describe substitution mutation
- 1 base swapped for another
- Number of bases stays same = no frameshift = only 1 codon changes
- Genetic code = degenerate = 1 codon could still code for same amino = no impact to protein
Describe inversion mutation
- Section of bases detach from DNA sequence but when re-attaching = inverted = code read back to front
- Can cause different amino to be coded for that region
Describe translocation
- Section of bases detaches from 1 chromosome and attaches to another chromosome
- Causes significant difference on gene expression = phenotype change
What is a stem cell?
Undifferentiated cells that can continually divide and become specialized
Describe a totipotent cells
- Divide and produce any type of body cell
- During development these cells only translate only 1 part of their DNA = specialization
- Occur for a limited time in early embryo
Describe pluripotent cells
- Divide and produce ALMOST any body cell
- Found in embryo a few days after fertilization
Uses of pluripotent cells
- Used in research to potentially use in treating human disorders
- Could be used to regrow damaged cells e.g. burnt skin, beta cells for diabetes, neurons in Parkinson’s
Issues with pluripotent cells
- Treatment with stem cells can continue dividing causing uncontrollable growth = create tumor
- Ethical: If it is ok to make a therapeutic clone of yourself + make embryo for stem cells then to destroy it
Describe multipotent cells
- Divide and produce into limited number of cells e.g. all blood cells
- Found in mature mammal cells e.g. bone marrow
Describe unipotent cells
- Divide and produce only 1 type of cell
- Found in mature mammal cells e.g. skin cells
Sources of stem cells
1) Embryos: For a limited time post fertilization = pluripotent
2) Umbilical cord blood: Like adult stem cells = multipotent
3) Placenta: Limited types of specialized cells = multipotent
4) Adult stem cells: Can repair within certain tissue + organs = multipotent/unipotent