1. Chapter 11 Introduction to Genetics
Gregor Mendel

2. A brief history Gregor Mendel
Breeding experiments using garden peas (1850s)
Established basic principles of heredity
Father of genetics

3. Basic vocabulary 1) Dominant 2) Recessive 3) Alleles
Trait that is expressed (by covering another)
2) Recessive
Trait that is hidden (may be covered by another)
3) Alleles
All genes for a specific trait

4. Dominant and recessive traits
The traits that seem to mask other traits when present are called dominant traits.
The traits that seem to be hidden in the presence of dominant traits are called recessive traits.

5. 5) Heterozygous (hybrid)
4) Homozygous (pure)
Both genes for a trait are the same
5) Heterozygous (hybrid)
Both genes for a trait are different

6. Homozygous vs. Heterozygous
Homozygous: inheriting two of the same alleles for a trait (AA tall/tall or aa short/short)
Allele: a variety of a trait
Heterozygous: inheriting different allele for a trait (Aa, tall/short)
Mendel concluded that each trait has two alleles that determines its appearance.

7. Phenotype? Genotype? 6) Phenotype
Actual expression of a gene (words describing)
7) Genotype
Actual genes present (symbols used)
Phenotype?
Red or White
Genotype?
RR or Rr or rr

8. 8) Mendel’s crosses: P = original parents
F1 = first filial (offspring) of parents
F2 = second filial (offspring of F1)

9. What did Mendel observe?
When a true-breeding (homozygous) tall plant is crossed with a true-breeding short plant in the P generation, the F1 height trait is always predictable. 100% are tall plants.
P generation F F2

10. Law of Segregation
Mendel concluded only one allele is passed from parent to offspring for each trait.
F1 plants must be heterozygous because the P generation only passed on one tall allele and one short allele.
The F1 plant will then pass on to its offspring either a tall or a short allele, never both.

11. What happens when the F1 tall plants are crossed together?
Mendel observed that the F2 generation, the offspring of F1 plants, are always in a fixed ratio of 3:1 tall:short.
Why?
P generation F F2

12. 9) Punnett Squares
Mathematical grid showing probable or possible offspring from a cross (phenotype & genotype ratios)
Monohybrid cross = working with only one trait

13. Punnett square Tt x Tt
Punnett created a table to show the average inheritance pattern of one offspring.

14. Pea traits that Mendel identified
Through multiple crosses, Mendel determined that all these traits displayed a mathematical predictability for inheritance.
Seed Shape
Seed Color
Seed Coat
Color
Pod
Shape
Pod Color
Flower Position
Plant Height
Round
Yellow
Gray
Smooth
Green
Axial
Tall
Wrinkled
Green
White
Constricted
Yellow
Terminal
Short
Round
Yellow
Gray
Smooth
Green
Axial
Tall

15. Law of independent assortment
Because organisms are made up of more than one trait, Mendel concluded that the inheritance of one trait does not influence the inheritance of a second trait.
Example: Height of the pea plant does not influence the color of the peas
Height is independently assorted from color.

16. 10) Dihybrid cross
working with two traits (gives twice as many gametes possibilities, so 4 times as many offspring) classical ratio of 9:3:3:1

17. Using dihybrid crosses to show independent assortment
A smooth, yellow pea (RrYy) can pass on these combinations of genes to its offspring: RY, Ry, rY, or ry.

19. 11) incomplete dominance
Both alleles for a trait blend together creating a new expression in the heterozygous condition
examples: snapdragons

20. Variations on Mendel
Incomplete dominance: the heterozygous genotype shows a blend of the two parents and not the dominant allele

21. 12) co-dominance Both alleles for a trait show up equally
Examples: roans, “checkered” chickens

22. Variations on Mendel
Codominance: the heterozygous genotype shows both inherited alleles
Example of roan horse coat: AA (dark red) x aa (white)  Aa (dark red and white)

23. 13) multiple alleles More than two alleles for a trait
Examples: coat color of rabbits
Key
C = full color
Cch = chinchilla
Ch = Himalayan
C = albino
CC, Ccch, Cch, or Cc
cchch, cchcch, or cchc
chc or chch cc

24. Variations on Mendel
Multiple alleles: when there are more than two alleles that code for a trait
Example: ABO blood type
A type = AA or Ao
B type = BB or Bo
O type = oo
AB type = AB

25. Blood typing

26. 14) polygenic inheritance
Many genes affect the expression of the trait
Examples: skin, eye, & hair colors

27. Variations on Mendel
Polygenic trait: when more than one gene codes for a particular trait
Example: fur color, human height, human skin color, eye color

29. Modernizing Mendelian genetics
DNA is the basis for inheritance.
DNA are coiled into chromosomes.
Parts of the DNA that code for a trait are called genes.
Some genes have only two alleles and other have more.
Gene for hairline Allele: A
Genotype: Aa
Gene for hairline Allele: a

30. Homologous Chromosomes. (homologues)
Chromosome pairs or mates (similar in size, shape, info)
0ne from each parent
Humans have 23 pair (total = 46)

31. Meiosis
A process of reduction division in which the number of chromosomes per cell is cut in half through the separation of homologous chromosomes in a diploid cell.
Meiosis usually involves two distinct divisions, called meiosis I and meiosis II. By the end of meiosis II, the diploid (2n) cell that entered meiosis has become four haploid (n) cells.

32. Meiosis Production of haploid gametes Similarities to Mitosis:
Same basic stages, except occur twice

33. Gametes Haploid (n or 1n) Reproductive cells (eggs & sperm)
A cell with one of each type of chromosome or half the total number

34. Result is “reduction division” into 4 haploid cells instead of 2 diploids
In males = all 4 become sperm
In females = only 1 egg; other “polar bodies” disintegrate

35. Meiosis 1

36. Meiosis II Prophase II Metaphase II Anaphase II Telophase II
Meiosis I results in two haploid (N) daughter cells, each with half the number of chromosomes as the original.
The chromosomes line up in a similar way to the metaphase stage of mitosis.
The sister chromatids separate and move toward opposite ends of the cell.
Meiosis II results in four haploid (N) daughter cells.

37. Zygote
(fertilized egg) first cell of an organism with a complete set of chromosomes
Diploid (2n)
Cell with a full set (two of each type) of chromosomes

38. Oocyte or Spermatocyte (egg cell) (sperm cell)
This cell that can undergo meiosis originally has 6 chromosomes and has replicated to 12 chromosomes in preparation for meiosis.

39. Differences: Homologues remain together during prophase I
Crossing over (when chromatids exchange pieces) occurs during metaphase I

40. Click on image to play video.

41. Prophase I: homologous chromosomes pairing into tetrads

42. Metaphase I: tetrads align, along the metaphase plate

43. Anaphase I: homologous chromosomes separate from the metaphase plate
If chromosomes do not properly separate, this is called nondisjunction.
Nondisjunction leads to trisomy and monosomy disorders.

44. Telophase I: membranes form around the separated homologues

45. Prophase II: spindle fibers bind to the sister chromatids of each chromosome

46. Metaphase II: chromosomes align along the metaphase plate

47. Anaphase II: sister chromatids separate to opposite poles

48. Telophase II: nuclear membrane forms around newly separated chromatids
Note that each new nucleus formed has ½ the amount of DNA as the original cell.
These cells are haploid cells.

49. Nondisjunction

50. Click on image to play video.

51. Click on image to play video.

52. How can siblings look alike but not exactly the same if they come from the same parents?

53. Crossing over
The chromosomes during prophase I undergo crossing over, where parts of the homologues randomly switch places.

54. Importance of crossing over
The gene combinations that a person gets from his or her parents will be different, to varying degrees, than the combination a sibling may get.

55. More sibling similarities

57. Variations on Mendel
Linked genes: Mendel concluded that traits are assorted independently, but some traits are linked.
This means that two genes are almost always inherited together (ex: red hair, green eyes).

58. Fruit fly chromosome #2
Exact location on chromosomes
Chromosome 2
For example, a fly with reddish-orange eyes and
miniature wings, were almost always linked, inherited,
together.