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This comprehensive guide explores genetic mutations, their types, and their consequences on heredity. Mutations involve changes in genetic material, which can result in various outcomes, from silent mutations to impactful disorders like sickle cell anemia. We will delve into point mutations, insertions, deletions, and chromosomal abnormalities. Key concepts such as mutagens and designer babies will be discussed to understand the broader implications of genetic modifications. The interplay between heredity and mutations highlights the intricate relationship that shapes our genetic destiny.
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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.
