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Mutations

Mutations. Mutation. Now and then cells make an oops when copying their own DNA These mistakes are called mutations Mutations: are changes in the genetic material On average a mutation occurs once every 1000 bases. Kinds of Mutations. Mutations are as unique as you are!

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Mutations

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  1. Mutations

  2. Mutation • Now and then cells make an oops when copying their own DNA • These mistakes are called mutations • Mutations: are changes in the genetic material • On average a mutation occurs once every 1000 bases

  3. Kinds of Mutations • Mutations are as unique as you are! • Gene Mutations: mutations that make changes to a single gene • Chromosomal Mutations: produce changes in the whole chromosome

  4. Gene Mutations • Oops! • When replicating itself DNA can make a few mistakes… • Substitutions- 1 base changed to another • Addition- a base is inserted • Subtraction- a base is removed

  5. The Fat Cat • Let put it into words… THE FAT CAT ATE THE RAT What are these three letter word combos called? CODONS Lets take away some letters and see what happens THE FAT CAT ATE THE RAT THE ATC ATA TET HER AT What type of mutation is this an example of? SUBTRACTION: FRAMESHIFT

  6. Kinds of Gene Mutations • Point mutation- gene mutation that changes one nucleotide • Why do you think its called a point mutation? • Frameshift mutation- gene mutation that changes the “reading frame” of the genetic message • Which do you think would be worse? Which would you rather have?

  7. What’s the difference you ask??? • Start with substitution DNA: TAC GCA TGG AAT mRNA: AUG CGU ACC UUA A.A’s: Substitution DNA: TAC GTA TGG AAT mRNA: AUG CAU ACC UUA A.A’s: What happened!?! What type of gene mutation is this?

  8. How about another example DNA: TAC CGA TGG AAT mRNA: AUG CGU ACC UUA A.A’S: Met - Arg - Thr - Leu Insertion DNA: TAT CGC ATG GAA T mRNA: AUA GCG UAC CUU A A.A’s: • This is a type of mutation?

  9. Do You Remember….? • What was the second kind of gene mutation? • Chromosomal • There are five types of chromosomal mutations • Deletion, Duplication, Insertion, Inversion and Translocation

  10. Chromosomal Mutations • Deletion- Loss of all or part of chromosome • Duplication- produce extra copies of pairs • Inversion- Reverse the direction of parts of chromosomes • Translocation- Part of one chromosome breaks off and attaches to another

  11. So… Which type would you Rather Have Now? • Point or Frameshift?

  12. Examples

  13. Albinism- unable to produce pigment One person in 17,000 in the U.S.A. has some type of albinism.

  14. Progeria- premature aging 1 in 4 to 8 million children

  15. Hypertrichosis(Werewolf Syndrome)- excessive growth of hair

  16. Marfans Syndrome- disorder of the connective tissues

  17. Polymelia- extra limbs

  18. Arn’tyou lucky?

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