2. Identify the type of mutation: 1.Gene or Chromosome 2. Point, Frame Shift, Deletion, Duplication, Inversion, or Translocation TACCCATGGATGCTACCCCTGGATGC QRST UVWX QRSSST UVWX QRST UVWX QR UVWX QR UVWXTACCCATGGATGCTACCATGGATGC TACCCATGGATGCTAGCCCATCCATGC QRST UVWX QRVU TSWX QRST UVWX ABC DEFWX TACCCATGGATGCTACCGATGCATCG Warm-Up #17 2/22/13

3. Mutation Quiz Study Guide 1) What is a mutation? 2) What are the 2 causes of mutations? 3) What are the 3 affects of mutation? 4) What is a mutagen? List 5 examples. 5) What two places can a mutation occur (in the body)? 6) What are the 2 types of mutations? How are they different? 7) What is nondisjunction? What are the 3 types. 8) Be able to identify these types of mutations. (ON NEXT SLIDE) 9) Be able to find the mutation in the chart. (ON NEXT SLIDE)

4. 8 9 THESE WERE ON YESTERDAY’S HOMEWORK

5. Warm-Up #16 2/21/13 1) What did the scientist Franklin discover? 2) Watson and crick are responsible for what? 3) What type of RNA is pictured? 4) What is polymerase and what does it do? 5) Using the following words list the steps to transcription and translation. Nucleus, mRNA, tRNA, Ribosome, DNA, Amino Acids Nucleus, mRNA, tRNA, Ribosome, DNA, Amino Acids

6. MUTATIONS Unit 7: Molecular Genetics Chapters 12 & 13

7. Today is About…  Essential Question:  How can a mutation in DNA affect an organisms ability to survive?  ESSENTIAL QUESTION QUESTION is on back of is on back of the notes! the notes!  Objectives: 1. Contrast gene mutations and chromosomal mutations 2. Describe a typical gene 3. Describe how the lac genes are turned on and off 4. Explain how must eukaryotic genes are controlled 5. Relate gene regulation to development

8. Mutations can be visible Polydactyly Conjoined twins

9. Or microscopic! Sickle cell anemia

10. Mutations can be fatal Spina bifida

11. Or cause medical disorders. Hemophilia

12. Mutation  A change in the genetic material.

13. Mutations  May be harmful, beneficial, or cause no effect.  Harmful Mutation: Sickle Cell  Beneficial Mutation: Antibiotic Resistant Bacteria (beneficial to the bacteria)  No Effect Mutation: Same Protein Made  May occur in somatic cells—not inheritable.  May occur in gametes—inheritable.

14. Mutations are caused by mutagens.  Radiation  Hormones  Viruses  Temperature  Chemicals

15. Two types of mutations:  Gene mutations  Chromosomal mutations

16. Gene mutations involve individual genes (proteins). Two types are:  Point mutations--change of one nucleotide. (substitution)  Frame shift mutations--loss or gain of one nucleotide.  Examples include sickle cell anemia, cystic fibrosis, and Duchenne muscular dystrophy.

17. SubstitutionInsertion Deletion Point Frameshift Mutation Mutations

18. Chromosomal mutations involve segments or whole chromosomes.  Nondisjuntion  Deletion  Duplication  Inversions  Translocations

19. Nondisjunction (ON BACK)  One cell has an extra chromosome while the other lacks one.  During meiosis chromosomes stick together instead of pulling apart  Produces an odd number of chromosomes  Ex. get 45 or 47- Instead of 46 normal –

20. Types of Nondisjuction (ON BACK)  Trisomy – 1 extra chromosomes  Down’s Syndrome, three of chromsome 21  Klinefleter’s Syndrome – Extra X = XXY  Jacob’s syndrome- Extra Y= XYY  Monosomy – missing chromosome  Ex. Turner’s Syndrome – Female with 1 X = OX  Polyploid – 4 or more chromosomes  Instead of 1n, gametes are 3n or 4n  Common in plants  Lethal in humans

21. Del ions  Part of or an entire chromosome is missing.

22. The entire B gene has been deleted from the chromosome. Deletion

23. EX: Cri du Chat is a deletion mutation. An affect person sounds like a cat when they cry.  Part of chromosome 5 is missing in this rare genetic disorder.

24.  Duplipliplication  Part of a chromosome is duplicated.

25. Duplication The entire B gene has been duplicated so there are two copies of it on one chromosome.

26. Fragile X Syndrome One of the most common causes of mental retardation is Fragile X syndrome where there are 55-200 copies of a gene on the X chromosome.

27. Inv  Part of a chromosome is cut out and reattached in the wrong direction. er sions

28. Inversion The B and C genes have flipped around with the D and E genes.

29. Chromosome inversion Normal chromosome Chromosome with inversion--often has normal individual.

30.  Trans tions  Part of a chromosome is cut out and reattached on a differentloca chromosome.

31. Translocation The DEF and JKL genes have broken off and moved to another chromosome.

32. Philadelphia translocation  This is found in tumor cells of patients with chronic myelogenous leukemia.

33. CML (Leukemia) vs. healthy blood

34. Gene regulation  A cell only uses some genes; other genes are kept “silent” (turned off).  Sites near the promoter determine if a gene is turned on or off.

35. Gene regulation  Prokaryotes have operons- genes that work together and can be turned on and off.

36. Gene regulation  Eukaryotes control genes individually  A liver cell has all of the genetic code- uses only parts of the code needed for liver functions.

37. PLEASE play mutation video located on the desk top now