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Topic: Genetic Changes. How can genetic information be altered?. Thought Questions. How is reading the DNA like a recipe? What happens when recipes go wrong? How does a wrong recipe relate to having the wrong “DNA” recipe?. Mutations. What do you think of when you think mutations?
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Topic: Genetic Changes How can genetic information be altered?
Thought Questions • How is reading the DNA like a recipe? • What happens when recipes go wrong? • How does a wrong recipe relate to having the wrong “DNA” recipe?
Mutations • What do you think of when you think mutations? http://www.youtube.com/watch?v=YOXpKUu6pUg
Mutation Definition Rearrange • in a genetic that affect sequence genetic information DNA changes
What are genetic mutations? • genetic changes in a DNA sequence that affect genetic information
Can mutations be passed down? • Passed down through sex cells ONLY, not somatic cells • Mutations can be harmful when expressed, but can be hidden
Agents that Cause Mutations: • Environment • Mutagens: factors in the environment that can cause a mutation • Long term radiation exposure ( UV from the sun, radioactivity) cancer related • Chemical exposure ( formaldehyde, benzene, cigarette smoke) • pH, physical manipulation, temp Example: Temp. influenced : Himalyan Rabbit expresses genes in the winter( low temps) to make black fur for warmth. *** Environment can influence genetic expression
Temperature Influences Trait Rabbit expresses genes for a dark coat on particular parts of its body. When an ice pack is placed on its back, it too turns black WHY DID THIS HAPPEN?
Two Major Types of Mutations:Chromosomal and Gene • A- Chromosomal mutations involve changes on complete chromosomes. Ex: Inversion,Translocation, Deletion, Duplication B- Point mutations happens when one nucleotide base is changed. Results in a frame shift mutation (the codon sequence is shifted) Types: Substitution, Insertion, Deletion,
Types of Chromosomal Mutations- Inversion • Segment of the chromosome breaks off and reinserted in the same place but in the reverse direction relative to the rest of the chromosome
Types of Chromosomal Mutations- Translocation Information from one of two homologous chromosomes breaks and binds to the other. Known as “jumping genes”
Types of Chromosomal Mutations- Duplication • segment of chromosome is repeated
Types of Chromosomal Mutations- Deletion • loss of some or all of the chromosome
Label the chromosomal mutation Deletion Duplication Inversion Translocation
Point Mutations- Substitution Substitution = when one base is replaced with another Can results in transcription and translation of a different amino acid than expected. Sickle Cell Anemia disease where substitution occurs on one base. Valine is substituted for glutamic acid Results in the RBC having a sickle shaped instead of a round shape. RBC binds less oxygen.
Sickle Cell Anemia • Disease where an individuals red blood cells are sickle in shape due to a substitution mutation that occurs in the DNA sequence of their red blood cell. Valine is substituted for glutamic acid
Insertion • Insertion= when bases are added to the DNA sequence • Results in the frame shift (bases move down) from the nucleotide sequences. Different (sometimes wrong or unwanted) amino acids are created into proteins
Deletion • Deletion= nucleotides are deleted, which affects the coding of proteins that use this DNA sequence
Results of Insertions & Deletion Mutations Insertion and Deletion mutations cause the DNA sequence to be read incorrectly Frameshift change
Substitution Insertion Deletion
Results of a mutation • Results in a incorrect transcription and translation of DNA can ultimately result in a different protein • Consequences: the protein may be the wrong protein that the cell needs or cellular function
RESULTS OF ALL TYPES OF MUTATIONS • Overexpression of protein instruction • No expression of protein instruction • Expression of wrong protein instruction
Human Diseases Caused By Mutations • Sickle Cell Anemia - substitution mutation • Huntington’s Disease - addition mutation • Tay-Sachs Disease - deletion mutation • PKU- phenylketonuria- chromosomal mutation
PKU-phenylketonuria • Missing enzyme that helps to breakdown phenylalanine. Genes are not expresses to make the enzyme phenylalanine hydroxylase
Recipe for a Ham & Cheese Sandwich (Normal) • Take 2 pieces of ham and place it on one slice of bread. • Add one slice of cheese on top of the ham. • Place one piece of lettuce on top of the cheese. • Place mayo on the second piece of bread. • Close the sandwich with the mayo on the inside. Enjoy!
Name the mutation • Takke 2 pieces of hham and place it on one slice of bread. • Add one sliccce of cheese on top of the ham. • Ppplace one piece of leettuce on top of the cheese. • Place mayyyo on the seccond pieeece of bread. • Clossse the sandwich with the mayo on the inside. Enjoyyyyyyy!
Name the mutation • Place mayo on the. • Take 2 pieces of ham and on top of the ham. place it on one slice of bread. • Add one slice of cheese • Place one piece of lettuce on top of the cheese. • second piece of bread Close the sandwich with the mayo on the inside. Enjoy!
Name the mutation • Take 2 pieces of ham and place it on one slice of bread. • Place mayo on the second piece of bread. • Close the sandwich with the mayo on the inside. Enjoy!