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genetic disorders 4 - Coggle Diagram

- - - - inability to break down phenylalanine, can lead to brain damage
  - - - e.g. in cystic fibrosis, potentiators can be administered and bind to the CFTR, restores anion transport
  - - - natural
        
        e.g. organ donation: heart/kidney
      - neo / artificial
        
        not really viable in 2024
- - - - want to introduce the cloned corrected gene into the body to only affect the suffering organ
        
        one route of entry considered is the eye, as it is a reasonably self sustaining small organ
      - it is a bit of a shitty method, so is less commonly carried out
    - - cells sample taken from patient and cultured with e.g. transgene, and cells that take up the gene are re-entered into the patient
      - much more reliable and common method, currently used in some cancer therapies
  - - - adenovirus and retroviruses are well adapted for the delivery of genetic material into cells
      - safety issues
        
        must be replication deficient
        
        could cause insertional mutagenesis
    - - liposomes (lipid nanoparticles)
      - direct injection into cells
  - - - can inject directly into cells
    - - easy for the use of nasal sprays n shit
        
        These are good targets through either being fairly regular dividers... or are easy targets to reach without affecting other tissue
- - - - taking placental cells from a part called the chorionic villus
      - help build foetal karyotype
      - less risk involved, but less accurate than amniocentesis
    - - removal of amniotic fluid
      - help build karyotype
      - higher risk test (1 in 100 checks result in miscarriage)
    - - the risk is due to the use of needles are the close proximity to the foetus
  - - - heel prick (blood collection)
        
        less evasive
    - - for carrier detection
      - and for possible signs for late onset disorders
  - - - mutations
        
        deletions
        
        easier to observe, look at the banding patterns through staining
        
        point mutations
        
        known mutations
        
        ARMS (amplification refractory mutation system)
        
        designing a primer to only stimulate DNA polymerisation when annealed
        
        quick and simple way to detect known point mutations
        
        can also design primer for a mutated restriction site
        
        sequence the DNA
        
        unknown mutations
        
        single strand conformation polymorphism (SSCP)
        
        sequence the DNA (probably only works for organisms we know the genome for)
    - - observation of allele linkage (linkage disequilibrium)
        
        it says looking at sites of high polymorphism, but i feel like in this day in age we would probably just look at SNPs, this is probably old fashioned