Test 2 Thursday Nov. 17

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  • Test 2 Thursday Nov. 17

    1. 1. Test 2 Thursday Nov. 17 Quiz 4 answers http:// webct . mun .ca:8900/ All quizzes on WebCT for Review Office Hours: Tuesday 10:30 – 12:00 Wed. 1:15 – 2:15 or by appointment: 737-4754, dinnes@mun.ca
    2. 2. Mendelian Genetics Topics: -Transmission of DNA during cell division Mitosis and Meiosis - Segregation - Sex linkage ( problem: how to get a white-eyed female ) - Inheritance and probability - Independent Assortment - Mendelian genetics in humans - Linkage - Gene mapping <ul><li>Gene mapping in other organisms </li></ul><ul><li>(fungi, bacteria) </li></ul><ul><li>- Extensions to Mendelian Genetics </li></ul><ul><li>- Gene mutation </li></ul><ul><li>- Chromosome mutation </li></ul><ul><li>(- Quantitative and population genetics) </li></ul><ul><li>B2900 </li></ul>          
    3. 3. Mutation Source of genetic variation: Gene Mutation - somatic, germinal Chromosome mutations (Ch. 11) - structure (deletion, duplication, inversion, translocation) - number  
    4. 4. Chromosome Mutation (2. changes in number) Euploidy: variation in complete sets of chromosomes Aneuploidy: variation in parts of chromosome sets
    5. 5. Euploidy 1x monoploid (1 set) = n 2x diploid (2 sets) = 2n 3x triploid 4x tetraploid 5x pentaploid polyploid (> 2 sets) 6x hexaploid n = # chromosomes in the gametes 2n 4n
    6. 7. Polyploids Autopolyploids: within one species Allopolyploids: from different, closely related species
    7. 8. Polyploids Larger than Diploids
    8. 9. Polyploids Triploids: = 3n - problems with pairing during meiosis - unbalanced gametes - usually steril e Applications: seedless fruits, sterile fish aquaculture
    9. 10. Formation of Triploids n n n = 3n n Polar bodies n 2 n n = 3n
    10. 11. Triploids (3x) Why can’t a triploid produce viable gametes ?
    11. 12. Fig. 11-5
    12. 13. Triploids (3x) x = 1 Gametes
    13. 14. Triploids x = 2 Gametes or viable Non- viable
    14. 15. Viable Gametes from Triploids Probability (2x or x gamete) = ( ) if x = 10 Prob. = 0.002 of viable gametes 1 2 x - 1 # of chrs 2 3 4
    15. 16. Triploid Fish Frankenfish-Biotech 3n carp
    16. 17. Autotetraploid
    17. 19. Autotetraploid Doubling of chromosomes: 2x----> 4x Even number of chromosomes: normal meiosis 2<---->2 segregation------> functional gametes
    18. 20. Polyploids Autopolyploids: within one species Allopolyploids: from different, closely related species Hybridization
    19. 21. Origin of Wheat Fig. 11-10 Triploid 2n = 42 x = 7 n = 21 2n = 14, n = x = 7 Chromosome sets: A, B, D 7 7 7 hybrid 2n = 28 n = 14 7 14 Allopolyploid
    20. 22. Polyploidy Plants: speciation (wheat) Animals: - rare (sex determination) - fish (salmon: tetraploid) - parthenogenetic animals 123 11 22 12 12
    21. 23. Plant Polyploids
    22. 24. Chromosome Mutation ( changes in number) Euploidy: variation in complete sets of chromosomes Aneuploidy: variation in parts of chromosome sets 
    23. 25. Aneuploidy Nullisomics (2n - 2) Monosomics (2n - 1) Trisomics (2n + 1) normal
    24. 27. Aneuploidy Nullisomics (2n - 2) - lethal in diploids - tolerated in polyploids Monosomics (2n - 1) - disturbs chromosome balance - recessive lethals hemizygous Trisomics (2n + 1) - sex chromosomes vs autosomes - size of chromosome
    25. 30. Aneuploidy Non-disjunction: Gametes Meiosis I n + 1 n - 1 Meiosis II n + 1 n - 1 n n x n - 1 ---------> 2n - 1 monosomic n x n + 1 ---------> 2n + 1 trisomic
    26. 31. Human Aneuploids 13 18 21 X Y
    27. 32. Aneuploidy Humans: (live births) Monosomics - XO Turner syndrome - no known autosomes Trisomics XXY K linefelter sterile male XYY fertile male ( X or Y gametes) XXX sometimes normal 21 Down 18 Edwards syndromes 13 Patau
    28. 33. Downs Births per 1000 2 %
    29. 34. 0.62 % 50 %
    30. 35. Mutations Causing Death and Disease in Humans % of live births Gene mutations: 1.2 Chromosome mutations : 0.61
    31. 36. Chromosome Mutations (Humans) % of spontaneous abortions Trisomics 26 % XO 9 % Triploids 9 % Tetraploids 3 % Others 3 % Chromosome 50 % abnormalities
    32. 37. Chromosome Mutations Comparison of euploidy with aneuploidy Aneuploids more abnormal than euploids: likely due to gene imbalance Plants more tolerant than animals to aneuploidy and polyploidy (animal sex determination)
    33. 38. Summary Mutation - gene - chromosome (structure, number) Detecting - cytology - phenotype Rate of mutation - low Mutation - source of genetic variation - evolutionary change genetic analysis
    34. 39. Chapter References Mitosis and Meiosis Ch. 4 p. 100 – 112     Prob: 10, 11, 12, 18, 19 Mendelian Inheritance Ch. 5 p. 118 – 129     Prob: 1 – 3, 5, 6, 7, 8, 9 R ecombination , l inkage maps Ch. 6 p. 148 – 165 Prob: 1-5, 7, 8, 10, 11, 14 Extensions to Mendelian Genetics Ch. 14 p. 459 – 473 Prob: 2, 3, 4, 5, 6, 7 Chromosome Mutations Ch. 11 p. 350 – 377 Prob: 1, 2
    35. 40. Mendelian Genetics Topics: -Transmission of DNA during cell division Mitosis and Meiosis - Segregation - Sex linkage - Inheritance and probability - Independent Assortment - Mendelian genetics in humans - Linkage - Gene mapping <ul><li>Gene mapping in other organisms </li></ul><ul><li>(fungi, bacteria) </li></ul><ul><li>- Extensions to Mendelian Genetics </li></ul><ul><li>- Gene mutation </li></ul><ul><li>- Chromosome mutation </li></ul>           
    36. 41. Genetics Part I Part II Molecular Mendelian
    37. 42. Chromosome Theory of Inheritance - genes organized into chromosomes - correlation: Genetics & Cytology - theory can explain segregation and independent assortment
    38. 43. Two types of nuclear division 1. Mitosis (somatic tissue) 2. Meiosis (germ tissue)
    39. 44. Mendelian Genetics <ul><li>Meiosis and mitosis </li></ul><ul><li>Segregation and independent assortment </li></ul><ul><li>Sex linkage, sex determination </li></ul><ul><li>Pedigrees </li></ul><ul><li>Linkage, recombination and linkage maps </li></ul>
    40. 45. Mendelian Genetics <ul><li>Gene linkage: 3 point test cross, tetrad analysis </li></ul><ul><li>Extensions (dominance, multiple alleles, pleiotropy, epistasis, </li></ul><ul><li>penetrance and expressivity) </li></ul><ul><li>Mutation: gene mutation </li></ul><ul><li>chromosome mutation (number </li></ul><ul><li>structure) </li></ul>
    41. 46. Mendelian Genetics Applications Genetic markers as tools: - human diseases - population genetics - genetic structure (gene flow) - systematics and phylogeny - forensics
    42. 47. Mendelian Genetics in Humans Determining mode of inheritance Problems: 1. long generation time 2. can not control matings Alternative: * information from matings that have already occurred “ Pedigree ”
    43. 48. Human Pedigrees <ul><li>Pedigree analysis: </li></ul><ul><li>trace inheritance of disease or condition </li></ul><ul><li>provide clues for mode of inheritance </li></ul><ul><li>however, some pedigrees ambiguous </li></ul>
    44. 49. Human Pedigrees Pedigree analysis: dominant vs recessive autosomal vs sex linked
    45. 50. Linkage: Human Genetic Diseases <ul><li>Linkage: </li></ul><ul><li>organization of genes and genome </li></ul><ul><li>marker genes linked to: </li></ul><ul><li>Disease genes </li></ul>
    46. 51. Mutation Gene Mutation - somatic, germinal - detecting mutations Chromosome mutations - structure - number
    47. 52. Chromosome Mutation (changes in number) Euploidy: variation in complete sets of chromosomes Aneuploidy: variation in parts of chromosome sets
    48. 53. Careers in Genetics cytogenetics molecular genetics human genetics population genetics quantitative genetics developmental genetics immunogenetics etc. etc.
    49. 54. Genetics Courses B2900 Principles of Evolution and Systematics B2060 Principles of Cell Biology B3530 Developmental Biology B4241 Advanced Genetics B4250 Evolutionary Genetics B4900 Biotechnology Honours Thesis Research in Genetics
    50. 55. Announcement NSERC Undergraduate Student Research Awards (USRA) in Universities 16 weeks $5,625 www. nserc .ca MUN deadline Early Jan, 2006

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