Transcription, Translation Review

Mutations and Genetic Modifications

Engage: One Wrong Letter

Explore: What about Mistakes?? Mutation Any genetic material changes to a cell Any genetic material changes to a cell Modified Designer Babies Modified Designer Babies

Types of Mutations Point Mutations Point Mutations Base Pair Substitutions Base Pair Substitutions Silent Silent Missense – new protein (Amino Acid Substitutions) Missense – new protein (Amino Acid Substitutions) Nonsense – stop codon Nonsense – stop codon Base Pair Insertions and deletions Base Pair Insertions and deletions Triplet Repeats Triplet Repeats Frameshift Mutations Frameshift Mutations Variation in Chromosome Number Variation in Chromosome Number Chromosome Abnormalities Chromosome Abnormalities Deletions Deletions Translocations Translocations Duplications Duplications Inversions Inversions

Mutations: genetic material changes in a cell Point mutations…. Point mutations…. Changes in 1 or a few base pairs in a single gene Changes in 1 or a few base pairs in a single gene Base-pair substitutions:silent mutations no effect on proteinmissense ∆ to a different amino acid (different protein)nonsense ∆ to a stop codon and a nonfunctional protein Base-pair substitutions:silent mutations no effect on proteinmissense ∆ 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 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 Mutagens: physical and chemical agents that change DNA

Point Mutations

Base-Pair Substitution Ex) Missense Mutation One Amino Acid Substituted for Another One Amino Acid Substituted for Another Sickle Cell Anemia Sickle Cell Anemia Valine is replaced with Glutamic Acid Valine is replaced with Glutamic Acid

Sickle Cell Anemia

Base Pair Insertions Triplet Repeats Occurs when DNA is not copied correctly and a segment is repeated Occurs when DNA is not copied correctly and a segment is repeated Ex) Huntington Disease—CAG Repeat Ex) Huntington Disease—CAG Repeat

Deletion Shifts Reading Frame A deletion of one or more bases on a section of the chromosome. 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. Having any number of chromosomes that does not equal 23 pairs. Ex) Down Syndrome – 3 Chromosome 21’s Ex) Down Syndrome – 3 Chromosome 21’s

Chromosome Abnormalities

Translocations When one piece of a chromosome breaks off and attaches to another chromosome 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. 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 A reversal in the order of a segment of a chromosome

Heredity, Mutations, and Inheritable Diseases

Elaboration The next several slides will show different types of mutations. The next several slides will show different types of mutations. Name each of the following mutations. Name each of the following mutations.

What Type of Mutation?

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.. 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. 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. This film will review several concepts we have already covered and will introduce several new concepts to be learned.

Genetic Modification Where can it lead?