Mutation

• Mutation


  Changes made to an organism's genetic material
• Mutations


  • Changes may be due to errors
  • Mutants are organisms that contain mutations
• Point Mutation


  A change in a single nucleotide type of DNA, that may change the DNA gene type sequence
• Insertion


  An extra base pair is added
• Deletion


  An extra base pair is deleted from a sequence
• Substitution


  Bases are swapped for different ones
• Diseases of Insertion


  • Beta Thalassemia - RBC turn shapes into cubes
• Genetic Disorders is caused by a chromosomic abnormality, an abnormality in the genetic make-up of the individual
• Chareotype


  Individuals collection of chromosomes
• Chromosome


  Long DNA molecule
• Cri-du-Chat Syndrome


  • Also known as (Sp-minus) syndrome
  • Condition when piece of chromosome 5 is missing
  • Wide eyes, low set, ears small jaws
• Down Syndrome


  • Trisonomy 21
  • 21th pair of chromosomes is three (three chromosome)
  • Intellectual disability, weak muscle tone (hypotonia) in infancy and characteristical facial features
• Edwards Syndrome


  • Trisomy 18
  • 18th pair of chromosome is 3
  • Abnormalities in many part of the body
• Patau Syndrome


  • Trisomy 13
  • 13th pair is 3
  • Disrupts the development of the body
• Tauobsen Syndrome


  • Loss in chromosome 11
  • Late development of speech and motor skills
• Klinefelter Syndrome


  Condition in males with one extra copy of X chromosomes
• Turner Syndrome


  Condition in females where one normal X cell is present while the other sex cell is missing
• Turner Syndrome


  • Normal X cell is present while other sex cell is missing. Affects infancy and late development
• Cystic Fibrosis


  Body produces extra mucus that can clog up the lungs