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MUTATIONS

Explore the different types of mutations, such as gene and chromosome mutations, and their effects on genetic information. Discover the significance of mutations and what causes them, including inherited and acquired mutations. Learn about specific examples of chromosome mutations like Down Syndrome and Turner Syndrome.

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MUTATIONS

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  1. MUTATIONS Changes in DNA that affect genetic information

  2. Gene Mutations Mutations – changes in one or a few bases • These changes effect the protein that is created when the bases are being read.

  3. Gene Mutations • Substitution • THE FAT CAT ATE THE RAT • (GCT AAT) • THE FAT HAT ATE THE RAT • (GCC ATT) • Insertion • THE FAT CAT ATE THE RAT • (CGT ATA) • THE FAT CAT XAT ETH ERA • (CGT TAT A) • Deletion • THE FAT CAT ATE THE RAT • (CGA CAA TAT AGT) • THE FAT CAT ATT HER AT • (CGA AAT ATA GTC) H

  4. Chromosome Mutations • Changes in number and structure of entire chromosomes • When DNA or Chromosomes are changed, the proteins they make may alter the cells and their functions

  5. Significance of Mutations • Most are neutral (Neutral Mutation) • Eye color • Birth marks • Some are harmful (Negative Mutations) • Sickle Cell Anemia • Down Syndrome • Some are beneficial (Positive Mutation) • Sickle Cell Anemia to Malaria • Immunity to HIV

  6. What Causes Mutations? • There are two ways in which DNA or Genes can become mutated: • Mutations can be inherited. • Parent to child • Mutations can be acquired. • Environmental damage • Mistakes when DNA is copied Substances that Cause Mutations are called “Mutagens”

  7. Chromosome Mutations • Down Syndrome • Chromosome 21 does not separate correctly. • They have 47 chromosomes in stead of 46. • Children with Down Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of inteligence.

  8. Chromosome Mutations • Cri-du-chat • Deletion of material on 5th chromosome • Characterized by the cat-like cry made by cri-du-chat babies • Varied levels of metal handicaps

  9. Sex Chromosome Abnormalities • Klinefelter’s Syndrome • XXY, XXYY, XXXY • Male • Sterility • Small testicles • Breast enlargement

  10. Sex Chromosome Abnormalities • XYY Syndrome • Normal male traits • Often tall and thin • Associated with antisocial and behavioral problems

  11. Sex Chromosome Mutations • Turner’s Syndrome • X • Female • sex organs don't mature at adolescence • sterility • short stature

  12. Sex Chromosome Mutations • XXX • Trisomy X • Female • Little or no visible differences • tall stature • learning disabilities • limited fertility

  13. Obey Andre The Giant! • GIANTS!

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