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Pedigree Analysis (Patterns of Inheritance (Autosomal recessive…

- - - - If they don't show symptoms themselves
    - - AFFECTED pearents have AFFECTED children
    - - Cystic Fibrosis
        
        Results
        
        Often Fatal in mid-20s
        
        Varying degrees of severity
        
        Symptoms
        
        Affects glands that produce mucous, sweat and digestive enzymes
        
        Being faulty means thicker secretions and blockages
        
        Caused
        
        Many gene mutations
        
        CFTR protein sits in plasma membrane and regulates flow of water and chloride ions
        
        Carriers
        
        1-29 Caucasians
        
        Most Prevalent
        
        1-46 Hispanics
        
        1-61 Africans
        
        1-90 Asians
        
        Ireland has the worlds highest prevalence1-1353
      - Sickle Cell Anaemia
        
        Symptoms
        
        Stiff and Sticky RBCs
        
        Fatigue
        
        Many systems are affected
        
        Homozygous recessive genotype leads to shorten life-span
        
        Heterozygous are unaffected
        
        Causes
        
        Abnormal Red Blood Cells
        
        Heterozygous Advantages
        
        Protected from malaria
        
        Misses worse symptoms
  - - - Two AFFECTED Parents producing and UNAFFECTED daughter
    - - Marfan Syndrome
        
        Caused
        
        Mutation on the Fibrillin-1 gene
        
        Spontaneous diseases mutations (25% of the time)
        
        Symptoms
        
        Reduction of Elacticity
        
        Increased released in growth factors
        
        Long faces
        
        Vision Problems
        
        Sunken or protruding chest
        
        Defects in the aorta
        
        Most common causes of deaths in these people
  - - - If mother is AFFECTED
        
        all daughters are CARRIERS
        
        all Males AFFECTED
      - if father is AFFECTED
        
        ALL daughters are CARRIERS
        
        sons are all UNAFFECTED
      - Example
        
        Colour Blindness
        
        Symptoms
        
        see similar colours only blue and yellow
        
        Causes
        
        Defective cones, either red or green are affected
        
        Duchenne Muscular Dystrophy
        
        Symptoms
        
        Progressive weakness and loss of muscle
        
        Progresses rapidly
        
        Causes
        
        Missing DMD code for dystrophin, no protection from wear and tear
    - - Passed from father to son
      - Expressed in every generation where there is a son
      - Examples
        
        Swyer syndrome
        
        Female, non-functioning ovaries
        
        Male Infertility
        
        Hypertrichosis pinnae auris
        
        Hairy ears
    - - AFFECTED males
        
        ALL AFFECTED daughters
        
        NO AFFECTED sons
      - Heterozygous families
        
        produce equally AFFECTED sons and daughters
      - Homozygous Mothers
        
        ALL AFFECTED
      - examples
        
        Hypophosphatemia
        
        Symptoms
        
        Low level of phosphate in blood
        
        Vitamin D-Resistance Rickets
        
        Slow Growth
        
        Short Stature
        
        Bowed legs
        
        Early Cranial fusion
        
        Dental Abnormalities
        
        Soft Bones
  - - - fatigue
      - Cell damage
      - Death if not treated
- - - - symptoms may not show for decades
      - People have children while not showing symptoms
    - - Genotype does not produce expected phenotype
      - Carrying dominant mutant allele
      - 25% with mutant allele show disease
      - 100% is incomplete penetrance
    - - Variability in given particular genotype
      - Genes don't have uniform level of expression
      - Results from interactions with other genes and environmental factors