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CH. 11.6 Mutations in Genes

CH. 11.6 Mutations in Genes. Objectives: Describe the following types of mutations: Base substitution Base insertion or deletion 2. Explain what can cause a mutation. Vocabulary: Mutation Mutagen. Mutations. Any change in nucleotide sequence of DNA Effects vary: None --> Severe.

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CH. 11.6 Mutations in Genes

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  1. CH. 11.6 Mutations in Genes Objectives: • Describe the following types of mutations: • Base substitution • Base insertion or deletion 2. Explain what can cause a mutation. Vocabulary: Mutation Mutagen

  2. Mutations Any change in nucleotide sequence of DNA Effects vary: None --> Severe • http://www.ptbeach.com/167020813143947783/cwp/view.asp?A=3&Q=278050&C=54590 • http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html

  3. Base Substitutions Single Base Mutation (Point Mutation) Replacement of one base or nucleotide for another. May or may not cause dysfunction in protein. • http://www.ptbeach.com/167020813143947783/cwp/view.asp?A=3&Q=278050&C=54590 • http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html

  4. Base Substitutions • http://www.ptbeach.com/167020813143947783/cwp/view.asp?A=3&Q=278050&C=54590 • http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html 1. Silent Mutation: Substitution does not result in a change in amino acid sequence. (More than 1 codon for each amino acid) Ex: GAA --> GAG still makes Glutamine

  5. Base Substitutions 2. Missense Mutation: Substitution DOES result in an amino acid substitution. Can have negative effects. Sickle Cell Anemia

  6. Sickle Cell Anemia • Sickled R.B.C.s are angular and inflexible • Get stuck in blood vessels and block blood flow (=PAIN). • Less functioning RBCs = Fatigue (limits O2 delivered to cells) • http://www.nhlbi.nih.gov/health/health-topics/topics/sca/

  7. Base Substitutions 3. Nonsense Mutation: Substitution results in a STOP CODON. • Shorter, incomplete protein • Negative impacts vary (How much protein was translated?)

  8. Mutations: INSERTIONS & DELETIONS “Frameshift” mutations: Nucleotide is added or removed. • Changes codons, changes amino acid sequence • Bigger impacts/ Different Proteins

  9. Review Mutations

  10. Mutagens: Cause Mutations • Physical Agents High frequency energy • X-rays • UV rays • Chemical Agents • Free-radical oxygens • Certain chemicals (chemotherapy)

  11. Mutations: Source of Genetic Variation Mutations are passed to offspring. Most lead to dysfunctional proteins. Some are lethal. Few - are beneficial (but important to gene pool) Variations in gene pool allow species to survive when environmental conditions change.

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