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MUTATIONS

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

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  1. MUTATIONS Changes in DNA that affect genetic information

  2. Mutations The two main types of mutations are Gene mutations Chromosome mutations

  3. 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

  4. 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

  5. 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

  6. 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.

  7. 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

  8. Non-disjunctionSex Chromosome Abnormalities • Klinefelter’s Syndrome • XXY • Male • Sterility • Small testicles • Breast enlargement

  9. Sex Chromosome Abnormalities • XYY Syndrome • Normal male traits • Often tall and thin • Associated with antisocial and behavioral problems • aka – DEATH ROW SYNDROME

  10. 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

  11. 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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