Please enable JavaScript.

Coggle requires JavaScript to display documents.

Genetic Screening (Sites used (https://ghr.nlm.nih.gov/primer/testing/gene…

- - - - Parents have to trust the doctors
      - Children get no consent, since they cant speak
        
        Can you legally change someone on a body to help them without their consent?
      - Genetic therapy doctors = What if they get it wrong?
        
        Who is to blame?
    - - Genetic therapy to change the genes for disorders
- - - - Uses a small brush/cotton swab to collect a sample of cells from the inside surface of the cheek.
  - - - Explains the benefits and limitations of the test
    - - Informed Consent
- - - - Studies single genes/short lengths of DNA
        
        Genes missing a section
        
        Small changes such as missing, added or altered parts within the DNA strand
      - Identifies variations or mutations that lead to genetic disorders
      - Disorders tested in this way
        
        Cystic Fibrosis(CF) - Genetic disorder that affects the lungs, pancreas, liver, kidney, intestines.
        
        Long term issues include difficulty breathing and coughing up mucus due to frequent lung infections
        
        Huntington's disease - A terminal progressive brain disorder that affects and breaks down the nerve cells in the brain
        
        Causes uncontrolled movement, emotional problems, and loss of thinking ability(cognition)
    - - Tests whole chromosomes/long lengths of DNA
        
        Looks at the structure, number and arrangement of the chromosomes
      - Parts of chromosome can be missing, duplicated or moved to a different part on another chromosome
      - Different types
        
        Karyotyping
        
        Results come in a form of a picture of all a person's chromosomes
        
        Disorders tested this way
        
        Down's Syndrome
        
        A extra chromosome number 21
        
        Affects the person's cognitive ability and physical growth, cause mild or moderate developmental issues
        
        Fluorescent in situ hybridisation (FISH) analysis
        
        Looks at certain parts of chromosomes
        
        Can detect very small pieces of chromosomes that are either missing or duplicated
        
        Disorders tested this way
        
        Duchenne muscular dystrophy
        
        A condition that causes muscle weakness
        
        Diagnosed using a blood sample which is looked at for the dystrophin gene
    - - Tests the amount/activity level of proteins
      - Abnormalities in the amount/activity of proteins can indicate changes in DNA that can cause genetic disorders
      - This test is usually used for newborn baby screening
      - Can detect babies who have conditions that affect one of the many essential chemical reactions in the body
        
        Phenylketonuria
    - - Done right after birth to identify genetic disorders that can be treated early in life
- - - - Diabetes is one of the genetic disorders that cannot be tested through genetic screening because there are virtually hundreds or thousands of different possible mutations in a particular gene for diabetes