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MUTATIONS

MUTATIONS. Changes in DNA that affect genetic information. Gene Mutations. Point Mutations – changes in one or a few nucleotides Substitution THE FAT CAT ATE THE RAT THE FAT HAT ATE THE RAT Insertion THE FAT CAT ATE THE RAT THE FAT CAT XLW ATE THE RAT Deletion

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MUTATIONS

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  1. MUTATIONS Changes in DNA that affect genetic information

  2. Gene Mutations • Point Mutations – changes in one or a few nucleotides • Substitution • THE FAT CAT ATE THE RAT • THE FAT HAT ATE THE RAT • Insertion • THE FAT CAT ATE THE RAT • THE FAT CAT XLW ATE THE RAT • Deletion • THE FAT CAT ATE THE RAT • THE FAT ATE THE RAT

  3. Missense Mutation • A point mutation that causes a change in codon • Entirely different protein! • Imagine you get a phone number incorrect.. 555-5467 – Jeff 555-5367 -- Carl

  4. Nonsense Mutation • Causes a premature stop codon • Stops the protein too early 555 – Jeff 555 - Carl

  5. My Previous Research • Nonsense Mediated Decay • Prevent nonsense mutation from being transcribed

  6. Gene Mutations • Frameshift Mutations – shifts the reading frame of the genetic message so that the protein may not be able to perform its function. • Insertion • THE FAT CAT ATE THE RAT • THE FAT HCA TAT ETH ERA T • Deletion • THE FAT CAT ATE THE RAT • TEF ATC ATA TET GER AT H H

  7. Chromosome Mutations • Changes in number and structure of entire chromosomes

  8. Significance of Mutations • Most are neutral • Eye color • Birth marks • Some are harmful • Sickle Cell Anemia • Down Syndrome • Some are beneficial • Sickle Cell Anemia to Malaria • Immunity to HIV

  9. 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

  10. 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.

  11. 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

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

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

  14. Mutations and Disease • Viruses mutate fast! • H1N1 • H5N1

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