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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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