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Inhertiance, Quantitative Traits, Diseases - Coggle Diagram

- - - - No consensus
      - Usually FAD - 1 first degree relative affected
    - - Early is before 65
      - Early correlates with FAD
      - LOAD = late onset AD
- - - - Good for whole genome scas
- - - - Relationship between 2 or more loci
    - - Relationship between alleles of two or more loci
      - Association mapping
        
        High resolution, low coverage
        
        Good for candidate gene testing
        
        Testing genes already suspected of involvement in a trait
        
        Does not presume a particular pattern of transmission
        
        Cystic fibrosis gene
        
        Genetic disease
        
        1 in 1800 births
        
        Recessive
        
        Involves
        
        chronic bacterial infection
        
        inflammation of lungs
        
        high electrolyte level in sweat
        
        gene influenced chloride ion transport
        
        identified through linkage analysis
        
        Detection of delta F308 mutation
        
        only present in two copies of affected offspring, never in carrier parents
        
        Sequencing showed it was involved in transmembrane ion transport
        
        Named Cystic Fibrosis trnasmembrane conductance regulator
        
        regulates fluid flow within cells and affects components of sweat, digestive fluids and mucus
        
        68% of chromosomes with gene show 3bp deletion
        
        Led to new agent, ivacaftor
        
        CFTR protentiator
        
        Lung improvement at 2 weeks
        
        Improves transport of chloride through ion channel by binding to channels directly
        
        Symptoms of CF
        
        Salty-tasting skin
        
        persistent coughing
        
        frequent lung infections
        
        Shortness of breath
        
        poor growth despite good appetite
        
        Few lived to primary school 1950s - now to 30s,40s
- - - - Mitosis
        
        Somatic Cell divison
        
        All 46 chromatids drawn to opposite poles of the cell
        
        2 daughter cells are generated
      - meiosis
        
        Humans are diploid- two versions of each gene
        
        Required for formation of germ cells
        
        Therefore germ cells have 23 chromosomes not 23 pairs
      - How are chromosomes prepared
        
        Blood sample removed
        
        White cells placed in culture
        
        Colchicine agent is added
        
        Arrests cell replication at metaphase
        
        Cells are lysed and chromosomes stained
- - - - Seen in chronic myeloid leukaemia
      - Small pieces of chromosomes 9 and 22 exchange places
- - - - Don't show symptoms
      - Produce normal AND mutant gametes which can affect offspring
  - - - smaller number of cells
      - creates cells which act abnormally
      - Grade IV glioblastoma multiforme
        
        20,000 deaths per year in Europe/US
        
        12 months life expectancy from diagnosis
- - - - ID twins share 100% of alleles
      - non-ID twins share 50%
- - - - Damaged DNA not repaired properly, increases risk
      - Mutations build up and cause cells to divide in uncontrolled way
      - Forming tumour
      - 40 -50% of women with BRCA2 develop breast cancer by 70
      - 13-20% develop ovarian cancer by 70
- - - - Time since mutation occured
      - map distance between markers and causative variant
      - if variant influence on trait is weak
      - If gene mutation causing trait is one of many similar mutations
    - - eg. finding Irish traits in New York