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MUTATIONS. Changes in DNA that affect genetic information. Mutations. The two main types of mutations are Gene mutations Chromosome mutations. Gene Mutations. Gene mutations are changes in a single gene. Point Mutations – WHEN ONE BASE IS CHANGED FOR ANOTHER Substitution

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mutations

MUTATIONS

Changes in DNA that affect genetic information

mutations1
Mutations

The two main types of mutations are

Gene mutations

Chromosome mutations

gene mutations
Gene Mutations
  • Gene mutations are changes in a single gene.
    • Point Mutations – WHEN ONE BASE IS CHANGED FOR ANOTHER
      • Substitution
        • THE FAT CAT ATE THE RAT
        • THE FAT HAT ATE THE RAT
gene mutations1
Gene Mutations
  • Frameshift Mutation – WHEN BASES ARE ADDED OR DELETED, causing the entire sequence to change
      • Insertion
        • THE FAT CAT ATE THE RAT
        • THE FAT CAT HAT ETH ERA T
      • Deletion
        • THE FAT CAT ATE THE RAT
        • THE FAT TAT ETH ERA T
chromosome mutations
Chromosome Mutations
  • Changes in number or structure of entire chromosomes
    • Non-disjunction – chromosome pairs fail to separate in meiosis. Offspring have:
      • Extra chromosome in 1 of the pairs
        • Down syndrome – every cell has an extra chromosome in the 21st pair
      • Missing a chromosome in one of the pairs
        • Turner’s Syndrome – sex chromosomes of a female have only one X
non disjunction
Non-disjunction
  • Down Syndrome – Trisomy 21
    • Chromosome 21 does not separate correctly.
    • They have 3 chromosomes in stead of 2 in the 21st pair.
    • Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of inteligence.
non disjunction sex chromosome abnormalities
Non-disjunctionSex Chromosome Abnormalities
  • Turner’s Syndrome
    • Sex chromosomes do not separate correctly.
    • Female has only 1 X chromosome instead of 2
      • sex organs don't mature at adolescence
      • sterility
      • short stature
non disjunction sex chromosome abnormalities1
Non-disjunctionSex Chromosome Abnormalities
  • Klinefelter’s Syndrome
    • XXY
    • Male
    • Sterility
    • Small testicles
    • Breast enlargement
sex chromosome abnormalities
Sex Chromosome Abnormalities
  • XYY Syndrome
    • Normal male traits
    • Often tall and thin
    • Associated with antisocial and behavioral problems
  • aka – DEATH ROW SYNDROME
significance of mutations
Significance of Mutations
  • Mutations are the most important source of genetic variation or diversity
  • Most are neutral
    • Eye color
    • Birth marks
  • Some are harmful
    • Sickle Cell Anemia
    • Down Syndrome
  • Some are beneficial – Ability to survive in a particular environment.
    • Sickle Cell Anemia to Malaria
    • Immunity to HIV
what causes mutations
What Causes Mutations?
  • There are two ways in which DNA can become mutated:
    • Mutations can be inherited.
      • Parent to child
    • Mutations can be acquired.
      • Environmental damage
      • Mistakes when DNA is copied
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