1. Mendel’s Breakthrough
Patterns, Particles, and Principles of Heredity

2. Outline of Mendelian Genetics
The historical puzzle of inheritance and how Mendel’s experimental approach helped solve it
Mendel’s approach to genetic analysis including his experiments and related analytic tools
A comprehensive example of Mendelian inheritance in humans

3. Gregor Mendel ( )
Figure 2.2
Fig. 2.2

4. Themes of Mendel’s work
Variation is widespread in nature
Observable variation is essential for following genes
Variation is inherited according to genetic laws and not solely by chance
Mendel’s laws apply to all sexually reproducing organisms.

5. The historical puzzle of inheritance
Artificial selection has been an important practice since before recorded history
Domestication of animals
Selective breeding of plants
19th century – precise techniques for controlled matings in plants and animals to produce desired traits in many of offspring
Breeders could not explain why traits would sometimes disappear and then reappear in subsequent generations.

6. State of genetics in early 1800’s
What is inherited?
How is it inherited?
What is the role of chance in heredity?

7. Mendel’s workplace
Figure 2.5
Fig. 2.5

8. Historical theories of inheritance
One parent contributes most features (e.g., homunculus, N. Hartsoiker, 1694)
Blending inheritance – parental traits become mixed and forever changed in offspring
Figure 2.6
Fig.2.6

9. Keys to Mendel’s experiments
The garden pea was an ideal organism
Vigorous growth
Self fertilization
Easy to cross fertilize
Produced large number of offspring each generation
Mendel analyzed traits with discrete alternative forms
purple vs. white flowers
yellow vs. green peas
round vs. wrinkled seeds
long vs. short stem length
Mendel established pure breeding lines to conduct his experiments

10. Monohybrid crosses reveal units of inheritance and Law of Segregation
Figure 2.9
Fig.2.9

11. Traits have dominant and recessive forms
Disappearance of traits in F1 generation and reappearance in the F2 generation disproves the hypothesis that traits blend
Trait must have two forms that can each breed true
One form must be hidden when plants with each trait are interbred
Trait that appears in F1 is dominant
Trait that is hidden in F1 is recessive

12. Alternative forms of traits are alleles
Each trait carries two copies of a unit of inheritance, one inherited from the mother and the other from the father
Alternative forms of traits are called alleles

13. Law of Segregation
Two alleles for each trait separate (segregate) during gamete formation, and then unite at random, one from each parent, at fertilization
Figure 2.10
Fig. 2.10

14. The Punnet Square
Figure 2.11
Fig. 2.11

15. Rules of Probability
Independent events - probability of two events occurring together
What is the probability that both A and B will occur?
Solution = determine probability of each and multiply
them together.
Mutually exclusive events - probability of one or another event
occurring.
What is the probability of A or B occurring?
Solution = determine the probability of each and add

16. Probability and Mendel’s Results
Cross Yy xYy pea plants.
Chance of Y sperm uniting with a Y egg
½ chance of sperm with Y allele
½ chance of egg with Y allele
Chance of Y and Y uniting = ½ x ½ = ¼
Chance of Yy offpsring
½ chance of sperm with y allele and egg with Y allele
½ chance of sperm with Y allele and egg with y allele
Chance of Yy – (½ x ½) + (½ x ½) = 2/4, or 1/2

17. Further crosses confirm predicted ratios
Figure 2.12
Fig. 2.12

18. Genotypes and Phenotypes
Phenotype – observable characteristic of an organism
Genotype – pair of alleles present in and individual
Homozygous – two alleles of trait are the same (YY or yy)
Heterozygous – two alleles of trait are different (Yy)

19. Genotypes versus phenotpyes
Yy  Yy
1:2:1
YY:Yy:yy
3:1
yellow: green
Figure 2.13
Fig. 2.13

20. Test cross reveals unkown genotpye
Figure 2.14
Fig. 2.14

21. Dihybrid crosses reveal the law of independent assortment
A dihybrid is an individual that is heterozygous at two genes
Mendel designed experiments to determine if two genes segregate independently of one another in dihybrids
First constructed true breeding lines for both traits, crossed them to produce dihybrid offspring, and examined the F2 for parental or recombinant types (new combinations not present in the parents)

22. Results of Mendels dihybrid crosses
F2 generation contained both parental types and recombinant types
Alleles of genes assort independently, and can thus appear in any combination in the offspring

23. Dihybrid cross shows parental and recombinant types
Figure 2.15 top
Fig top

24. Dihybrid cross produces a predictable ratio of phenotypes
Figure 2.15 bottom
Fig bottom

25. The law of independent assortment
During gamete formation different pairs of alleles segregate independently of each other
Figure 2.16
Fig. 2.16

26. Summary of Mendel's work
Inheritance is particulate - not blending
There are two copies of each trait in a germ cell
Gametes contain one copy of the trait
Alleles (different forms of the trait) segregate randomly
Alleles are dominant or recessive - thus the difference between genotype and phenotype
Different traits assort independently

27. Laws of probability for multiple genes
P RRYYTTSS X rryyttss
F RrYyTtSs X RrYyTtSs
F2 What is the ratio of different genotypes
and phenotypes?
gametes
RYTS
ryts
RyTS
rYTS
RYTs
RyTs
rYTs
RYtS
RytS
rYts
Ryts
RYts
ryTs
rYtS

28. Punnet Square method - 24 = 16 possible gamete
combinations for each parent
Thus, a 16  16 Punnet Square with 256 genotypes
That’s one big Punnet Square!
Loci Assort Independently - So we can look at each locus
independently to get the answer.

29. What is the probability of obtaining the genotype RrYyTtss?
F RrYyTtSs  RrYyTtSs
What is the probability of obtaining the genotype RrYyTtss?
P RRYYTTSS  rryyttss
Rr  Rr
1RR:2Rr:1rr
2/4 Rr
Yy X Yy
1YY:2Yy:1yy
2/4 Yy
Tt  Tt
1TT:2Tt:1tt
2/4 Tt
Ss  Ss
1SS:2Ss:1ss
1/4 ss
Probability of obtaining individual with Rr and Yy and Tt and ss.
2/4  2/4  2/4  1/4 = 8/256 (or 1/32)

30. F RrYyTtSs  RrYyTtSs
P RRYYTTSS  rryyttss
What is the probability of obtaining a completely homozygous
genotype?
Genotype could be RRYYTTSS or rryyttss
Rr  Rr
1RR:2Rr:1rr
1/4 RR
1/4 rr
Yy  Yy
1YY:2Yy:1yy
1/4 YY
1/4 yy
Tt  Tt
1TT:2Tt:1tt
1/4 TT
1/4 tt
Ss  Ss
1SS:2Ss:1ss
1/4 SS
1/4 ss
(1/4  1/4  1/4  1/4) + (1/4  1/4  1/4  1/4) = 2/256

31. Rediscovery of Mendel
Mendel’s work was unappreciated and remained dormant for 34 years
Even Darwin’s theories were viewed with skepticism in the late 1800’s because he could not explain the mode of inheritance of variation
In 1900, 16 years after Mendel died, four scientists rediscovered and acknowledged Mendel’s work, giving birth to the science of genetics

32. 1900 - Carl Correns, Hugo deVries, and Erich von Tschermak rediscover and confirm Mendel’s laws
Figure 2.19
Fig. 2.19

33. Mendelian inheritance in humans
Most traits in humans are due to the interaction of multiple genes and do not show a simple Mendelian pattern of inheritance.
A few traits represent single-genes. Examples include sickle-cell anemia, cystic fibrosis, Tay-Sachs disease, and Huntington’s disease (see Table 2.1 in text)
Because we can not do breeding experiments on humans, we use model organisms.

34. In humans we must use pedigrees to study inheritance
Pedigrees are an orderly diagram of a families relevant genetic features extending through multiple generations
Pedigrees help us infer if a trait is from a single gene and if the trait is dominant or recessive

35. Anatomy of a pedigree
Figure 2.20 right
Fig. 2.20

36. A vertical pattern of inheritance indicates a rare dominant trait
Figure 2.20 left
Fig. 2.20
Hunitington’s disease: A rare dominant trait
Assign the genotypes by working backward through the pedigree

37. A horizontal pattern of inheritance indicates a rare recessive trait
Figure 2.21
Fig.2.21
Cystic fibrosis: a recessive condition
Assign the genotypes for each pedigree