1. Biology 2250 Principles of Genetics
Instructors:
Dr. Steven M. Carr  Molecular Genetics
Dr. David J. Innes  Mendelian Genetics

2. Course Web Pages Dr.Innes: www.mun.ca/biology/dinnes/B2250/B2250.html
Dr. Carr:
Text Web Page:
Virtual Fly:

3. Tentative Lecture Dates and Topics
Carr: Sept. 8 – Oct. 4 Structure and function of DNA and genes
Innes: Oct. 13 – Nov. 15 Mendelian Genetics
Carr: Nov. 22 – Dec. 1 Molecular Genomics
Tests: I Oct (Thurs)
II Nov.17 (Thurs)

4. Weekly Online Quizzes Marks Oct. 14 Example Quiz 2** for logging in
Oct Quiz
Oct Quiz
Nov Quiz
Nov Quiz

5. Log in: http://webct.mun.ca:8900/
WebCT Quizzes
Log in:

6. Webct quizzes

7. Course Goals Understanding of basic genetics Solve problems
Think and think critically
Contribute to a discussion on
current issues in genetics
(GMO, gene therapy…)

8. What is Genetics ? - Genetics is the study of heredity and variation
- Examples of genetic variation (within species)
1. Domesticated species
2. Human genetics
3. Natural Populations
Genetic variation Phenotypic variation
Molecular genetic variation

9. Cultivated varieties

10. Animal Breeds

11. Human Genetic
Variation

12. Natural Populations

13. Molecular Genetic Variation
DNA Sequence
Molecular Genetic Variation
DNA Fingerprint
Protein variation
Which suspect matches blood stain ?

14. Subareas of Genetics cytogenetics molecular genetics human genetics
population genetics
quantitative genetics
developmental genetics
immunogenetics
etc. etc.

15. Genetic Journals
American Journal of Medical Genetics Clinical Genetics
Developmental Genetics Human Molecular Genetics
Genetics European J. of Human Genetics
Genetics Selection Evolution Nature Genetics
Genetika Fungal Genetics and Biology
Genome Cancer Genetics and Cytogenetics
Genomics American J. Human Genetics
Heredity Annals of Human Genetics
Hereditas Opthalmic Genetics
Japanese Journal of Human Genetics Human Genetics
Journal of Heredity Current Genetics
Molecular Biology and Evolution Animal Genetics
Molecular Ecology Brazilian J. Genetics
Molecular and General Genetics Biochemical Genetics
Theoretical and Applied Genetics J. of Medical Genetics
Trends in Genetics (

16. Domestication of animals Cultivation of plants
History of Genetics
Domestication of animals
Cultivation of plants

17. Historical Notes 1953 J. D. Watson and F. Crick(*) DNA Structure

18. Advances in Genetics Human Genome Sequence
Drosophila Genome sequence
Other organsims:

19. Genetic Information Online Mendelian Inhertitance in Man (OMIM)
Online Mendelian Inhertiance in Animals (OMIA)

20. Ethical Issues in Genetics

21. Ethical Issues in Genetics
Genetically modified organisms (GMO)
Gene therapy (Parkinson’s)
Designer genes
Data banks of DNA finger prints (criminals?)
Cloning (Stem cell research)

22. Cloning 1999 - 2002 1997 1998 Sheep Mice Pig Goat Cow Dolly
“An udder way of making lambs”
“Cc” copy cat
nucleus
foster
egg

23. Genetics in the News

24. Basic Concepts of Genetics (Chapter 1)
Nucleus  contains genetic material
DNA  genetic material
 4 bases (nucleotides G, C, A, T)
Gene  functional unit of heredity
 sequence of 4 nucleotides
Chromosome  linear DNA molecule

25. Pairs of Chromosomes (maternal, paternal)
Two sets of chromosomes: diploid
One set of chromosomes: haploid

27. DNA Replication

29. Gene Expression 2. Translation of mRNA: triplet codon Amino acid
1. Transcription of mRNA from DNA

30. Understanding Genetics
Relationship between:
GENOTYPE ENVIRONMENT PHENOTYPE
set of genes morphology
inherited physiology
behaviour 2 2

31. Interaction of genes and environment
Phenotype
Genotype

32. Mendelian Genetics Topics: - Transmission of DNA during cell division
Mitosis and Meiosis (Ch. 4)
- Segregation (Ch. 5)
- Sex linkage (Ch. 5)
- Inheritance and probability (Ch.5)
- Mendelian genetics in humans
(pedigrees) (Ch.5)
- Independent Assortment (Ch. 6)
- Linkage (Ch. 6)
- Gene mapping (Ch. 6)

33. Mendelian Genetics Topics (cont.):
- Tetrad Analysis (mapping in fungi)
- Extensions to Mendelian Genetics
- Gene mutation
- Chromosome mutation
- (Quantitative and population genetics)

34. Basic Concepts of Genetics
Cell/nuclear division
Mitosis (somatic tissue):
identical cells
Meiosis (germ tissue):
gametes (variation)

35. Mendelian Genetics: Chromosomes
Readings:
Transmission of DNA and cell division
- Mitosis and meiosis (Ch. 4)
pp. 92, 100 – 113

36. Chromosome Theory of Inheritance (Ch. 4)
- genes organized into chromosomes
correlation: Genetics & Cytology
- theory can explain the behaviour of genes (segregation and independent assortment) 2 2

37. Chromosome and DNA Replication
DNA replication results in
chromosome replication
2. Nuclear and cell division

39. Mitosis Cell cycle: n Haploid (n) 2n Diploid (2n) S = synthesis
G = “gaps”
n = # of chr. in a set n
Haploid (n) 2n
Diploid (2n)

40. Meiosis n 2n

41. Animal
Polar bodies n n
egg

42. Plant n
gp = gametophyte

43. Fungus

44. Cytological Observations
1. Constancy of the number of chromosomes
Morphologically similar pairs (diploid)
3. Gametes - contain one set (haploid) 2n n
Homologous chromosomes 3 3

45. Two processes of nuclear division
1. Mitosis (somatic tissue)
2. Meiosis (germ tissue) 6 6

46. Mitosis 1. one parent cell--------> 2 identical daughter cells
2. same in all organisms
3. simple:
(a) each chromosome
doubles (identical)
(b) identical halves separate 7 7

47. 1.Prophase 2. Metaphase 3. Anaphase 4. Telophase
Four Stages of Mitosis
1.Prophase
2. Metaphase
3. Anaphase
4. Telophase 9 9

48. 1. Prophase - chromosomes condense - 2 chromatids (sister chromatids)
replication
1. Prophase
- chromosomes condense
- 2 chromatids (sister chromatids)
- centromere
- nuclear membrane breaks down 10 10

49. 2. Metaphase - chromosomes attach to spindle fibers
- chromosomes migrate to plane between poles
- maximum contraction: karyotype
- number
- centromere position
- length
Nuclear spindle 11 11

50. - centromeres divide - sister chromatids separate
3. Anaphase
- centromeres divide
- sister chromatids separate 12 12

51. 4. Telophase - nuclear membrane reforms - spindle disperses
- cytoplasm divides (cytokinesis) 13 13

52. Mitosis:
Mitosis: Summary
2n = 2
replication
mitosis

53. Mitosis: Summary
2n = 4
replication
mitosis

54. Mitosis Animation

55. Mitosis: Lily
Fig. 4-21

56. Meiosis (overview)
diploid (2n) > haploid (n) gametes
Chromosome replication once > 2 nuclear
divisions (meiosis I, II)
one nucleus > 4 nuclei 15 15

57. Meiosis I Meiosis II (reductional) (equational)
Prophase I Prophase II
Metaphase I Metaphase II
Anaphase I Anaphase II
Telophase I Telophase II 16 16

58. Meiosis I (reductional division)
Pairing of homologous chromosomes
2n = ?
Continued  17 17

59. Meiosis II (equational division)
4 products
n = ? 20 20

60. Meiosis Animation

61. Meiosis: Lily pollen Fig. 4-22 Prophase I Metaphase I Anaphase I
Telophase I
Prophase II
Metaphase II
Anaphase II
Telophase II

62. Mitosis Meiosis Comparison (Fig. 4-24)
somatic cells cells of sexual cycle
one doubling one doubling
1 division  2 cells divisions  4 cells
same amount of DNA ½ amount of DNA

63. Mitosis Meiosis Comparison (continued)
# chrs doesn’t change #chrs. halved
No pairing of chr Synapsis of homologs
Centromeres divide at Not at anaphase I,
anaphase but at anaphase II
Conservative Variation

64. Mitosis (n) Mitosis (2n) Meiosis
Fig. 4-20

65. Genetic Terminology Genes: hereditary elements
Alleles: forms of a gene: A , a
b, b+
Genotypes Gene pairs
Heterozygote: Aa bb+
Homozygotes: AA aa bb b+ b+ 2

66. Genes on Chromosomes
Expect behaviour of genes to correlate with the behaviour of chromosomes:
genes chromosomes
Diploid (2n) AA, Aa, aa pairs
Haploid (n) A one set a

67. Genes on Chromosomes
Fig. 4-17
b+ b+ homozygote

68. Genes on Chromosomes
b b+ heterozygote

69. b b homozygote

70. Genetic Links