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Transcription, Translation Review. Mutations and Genetic Modifications. Engage: One Wrong Letter. Explore: What about Mistakes??. Mutation Any genetic material changes to a cell Modified Designer Babies. Types of Mutations. Point Mutations Base Pair Substitutions Silent
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Explore:What about Mistakes?? Mutation • Any genetic material changes to a cell • Modified Designer Babies
Types of Mutations • Point Mutations • Base Pair Substitutions • Silent • Missense – new protein (Amino Acid Substitutions) • Nonsense – stop codon • Base Pair Insertions and deletions • Triplet Repeats • Frameshift Mutations • Variation in Chromosome Number • Chromosome Abnormalities • Deletions • Translocations • Duplications • Inversions
Mutations: genetic material changes in a cell • Point mutations…. Changes in 1 or a few base pairs in a single gene • Base-pair substitutions: •silent mutations no effect on protein •missense ∆ to a different amino acid (different protein) •nonsense ∆ to a stop codon and a nonfunctional protein • Base-pair insertions or deletions: additions or losses of nucleotide pairs in a gene; alters the ‘reading frame’ of triplets~frameshift mutation • Mutagens: physical and chemical agents that change DNA
Base-Pair Substitution Ex) Missense Mutation • One Amino Acid Substituted for Another • Sickle Cell Anemia • Valine is replaced with Glutamic Acid
Base Pair Insertions Triplet Repeats • Occurs when DNA is not copied correctly and a segment is repeated • Ex) Huntington Disease—CAG Repeat
DeletionShifts Reading Frame • A deletion of one or more bases on a section of the chromosome.
Variation in Chromosome Number • Having any number of chromosomes that does not equal 23 pairs. • Ex) Down Syndrome – 3 Chromosome 21’s
Translocations • When one piece of a chromosome breaks off and attaches to another chromosome
Duplications • Occurs during crossing over and one chromosome ends up with more genes than it received.
Inversions • A reversal in the order of a segment of a chromosome
Elaboration • The next several slides will show different types of mutations. • Name each of the following mutations.
Elaboration 2 • The next several slides will give you information concerning a particular mutation. On your paper describe the overall affect this mutation may cause..
Elaboration 2 • You will watch the movie Lorenzo’s Oil and complete the film guide questions. • This film will review several concepts we have already covered and will introduce several new concepts to be learned.