Review :

Comparison of Mitosis and Meiosis

Chapter 2

Mendelian Genetics

Mendels Experimental Design

Why are pea plants so useful?
Self-fertilization (selfing)

Cross-fertilization (cross-breeding)
discrete, nonoverlapping traits - flower and pod color, height

Pisum sativum (common garden pea)

Plant Anatomy
anatomy: Pistil Style Ovary anatomy: Stamen Anther (pollenproducing) Filament (for support)

7 Phenotypes (traits) of Pea Plants

Seed and pod color and shape

Pod location

7 Phenotypes (traits) of Pea Plants

Stem length (used only 2 extremes: tall or short) Flower color

unambiguously described each plant How did Mendel use these characteristics in designing experiments?

Crossing plants with only 1 variable trait

Chose homogeneous plants (pure-breeding : first grew them for 2 years) Cross tall and dwarf plants (P1 or parental generation) Offspring - F1 or first filial generation hybrids (monohybrids : different in only 1 trait)

Crossing plants with only 1 variable trait

Examine the traits of the F1 generation
all were tall : dominant recessive trait was masked
(monohybrid)

Examine the phenotypes of the F2 generation

3:1 ratio tall (787) dwarf (277)

Mendels proposed mechanism

a certain inherited unit (gene) produced 1 trait
Ratios of offspring produced : each trait is composed of 2 factors, one dominant and 1 recessive alleles -Homozygotes (pure-bred) ; heterozygotes (hybrids) Difference in genotypes and phenotypes in the P1, F1, and F2 generations

Mendels First Principle: The Law of Segregation

Each allele is a different form of a gene that will separate and randomly distribute into a gamete - each gamete has an equal probability of receiving either allele

Fertilization = fusion of two gametes

The Law of Segregation explains F1 genotype: HETEROZYGOTE (hybrid) F1 phenotype: DOMINANT (recessive trait masked)

The Law of Segregation: The Schematic Approach

The Law of Segregation: Use of the Punnett Square

critical assumption : all gametes listed occur (segregate) at equal probability every offspring (box) is equally likely

The Law of Segregation: using Probability to Predict Genotypes and Phenotypes

With only phenotypes, Mendel confirmed the Law of Segregation by selfing F2 plants
F2 generation
Phenotypic ratio 3:1 dominant to recessive (recessive trait reappears) Genotypic ratio 1:2:1

Self-fertilize F2 to produce F3 generation Predict what you would expect in

F2 : dwarf X dwarf F2 : tall X tall

Testing the Law of Segregation

How can you determine the genotype of an F2 offspring that expresses the dominant phenotype? Testcross : Mate the organism with the dominant phenotype with an organism that expresses the recessive phenotype.

What Kind of Data Is Obtained from the Test Cross?

Two possible outcomes that are phenotypically distinct :
1. Tall (homozygote) X dwarf (homozygous recessive) 2. Tall (heterozygote) X dwarf (homozygous recessive)

Crossing plants with 2 variable traits

P1 phenotypes: yellow, round x green, wrinkled F1 phenotype: yellow, round (dihybrid : heterozygous for 2 genes) F2 phenotypes: 315 round, yellow 108 round, green 101 wrinkled, yellow 32 wrinkled, green

(dihybrid)

divide each category by number in smallest group: 9.84 : 3.38 : 3.16 : 1.00 (~9:3:3:1) use of a Punnett square

Punnett square prediction of genotypes and phenotypes

(round, yellow)

(round, green)

(wrinkled, yellow)

(wrinkled, green)

critical assumption : all gametes listed occur (segregate) at equal probability alleles of 2 different genes are inherited (assorted) independently

The Law of Independent Assortment

Alleles for 1 gene segregate independently of the alleles for other genes F2 phenotypes: 315 round, yellow 108 round, green 101 wrinkled, yellow 32 wrinkled, green
Isolate individual phenotypes : 1. seed shape : 315+108 round 101+ 32 wrinkled 423 : 133 round : wrinkled (3.18:1.00) expect 3:1 for 1 gene

2. seed color : 315+101 yellow 108 + 32 green 416 : 140 yellow : green (2.97:1.00) expect 3:1 for 1 gene equal segregation of alleles for each of the 2 genes

Test of Independent Assortment : Testcross the Dihybrid Plant

Cross: F1 WwGg X wwgg

Predict the phenotypes in progeny

1:1:1:1

Round Yellow
Round Green Wrinkled Yellow Wrinkled Green Mendels results verified this and confirmed the Law of Independent Assortment : alleles for 1 gene segregate independently of the alleles for other genes

Multihybrid Crosses
with n genes (each containing 2 segregating alleles), there will be :

2n different gametes
2n different phenotypes 3n different genotypes

frequency of homozygous recessives = n

Genetic nomenclature
botany and mammalian genetics : uppercase letters : dominant alleles, lowercase letters : recessive alleles W : round w : wrinkled G : yellow g : green phenotypes : shape WW, Ww : round ww : wrinkled color GG, Gg : yellow gg : green

Wild-type and Mutant Characteristics in Drosophila

Wild-type: characteristic most common in nature
Eye color: red
Wings: oblong and flat

Mutant phenotypes: alternatives to the wild-type

Eye color: for example, white Wings: for example, dumpy (reduced wings)

Mutations of Drosophila Melanogaster

Genetic Symbol Convention in Drosophila genes are named after the mutant phenotype Capital letter mutation is dominant Lower case mutation is recessive
wing mutations :

Wild type allele symbol of the mutant followed by a superscript +

e.g. : wild type (red) eyes : w+ mutant (white) eyes : w

Genetic Symbolism in Drosophila

a + sign can be used alone for the wild type (only when referring to 1 gene at a time) multiple mutant alleles can exist for a gene : wa (white apricot) or wc (white crimson) There are cases where the gene can be designated by more than one letter: dp = dumpy wings, dp+ = wild type

Probability: Applications in Mendelian Genetics

Use of ratios : Probability (P) = a/n
a = number of times an event is observed n = total number of possible cases

Can be determined by: observation (empirical) - 1 child/10,000 born with phenylketonuria (PKU) - probability that next child born will have PKU = a/n = 1/10,000 nature of the event (theoretical): drawing a heart from a deck of cards 13/52 = 1/4

Probability: Applications in Mendelian Genetics

P=1 : event is an absolute certainty P=0 : event is impossible Probability of all events in an experiment : add up to 1

Basic Principle of Probability

If one event has c possible outcomes, and a second event has d possible outcomes, then there are cd possible outcomes of the two events. Mutually exclusive outcomes: events in which the occurrences of one possibility excludes all other possibilities

Independent outcomes: events that are not influenced by each other

The Sum Rule

Sum rule (either-or rule) used when events are mutually exclusive Example : what is the probability of picking either a heart or a spade from a deck of cards? P = 13/52 + 13/52 = 26/52 =

The Product Rule

Product rule (and rule) when occurrence of one event is independent of another event -Example 1: what is the probability of picking a heart and then a spade from a deck of cards? P = 13/52 x 13/52 = 169/2704 = 0.0625

-Example 2 : what is the probability of throwing 2 quarters with both landing on tails?

Probability Analysis for Monohybrid and Dihybrid Crosses

Monohybrid cross (tall phenotype): Dd X Dd Genotypic Ratio : 1 DD:2 Dd:1 dd Calculate the probability of Dd X Dd producing the tall phenotype (DD or Dd) P = 1/4 + 2/4 =3/4 Dihybrid cross between yellow, round plants : WwGg X WwGg probability of producing an offspring with wrinkled and yellow seeds : P of wrinkled phenotype = 1/4 (independent assortment) P of yellow seeds = 3/4 P (wrinkled and yellow) = 1/4 x 3/4 = 3/16

The Branched-Line Method to Calculate Probabilities: An Alternative to Punnett Squares

Branched-line analysis of dihybrid cross: AaBb X AaBb Independently calculate the probability of each trait
Use the Product Rule

Use of the Branched-Line Method for a Trihybrid Cross AaBbCc X AabbCc

Calculate the probability of each phenotypic class.
use the product rule with 3 independently assorting genes

Hypothesis Testing: Mendels Crosses

Examination of tall F1 plants that are self-crossed
F2 plants yielded 787 tall and 277 dwarf 2.84:1 (Mendel interpreted this as 3:1)

Based on probability, can you expect some deviation?

How much deviation is acceptable?
what if F2 plants yielded 709 tall and 355 dwarf (2:1 ratio) ?

Where do you draw the line? Statistics helps to develop Confidence Limits - not absolute certainty, but within random chance - allows us to determine whether results confirm or refute a hypothesis

Chi-square Distribution

= Greek letter chi

O = observed number for a category

E= expected number for that category

= sum of calculations for all categories

F2 Progeny from a Monohybrid Cross

P1: tall (DD) X dwarf (dd) F1 progeny: all tall (Dd) F1 self cross (Dd X Dd) F2 progeny 1064 total 787 tall 277 dwarf

What ratio did you expect? Test 3:1 and 1:1

Chi-square Analysis of the F2 Progeny

These 2 values are meaningless. They need to be interpreted using the Probability value (p)

Determination of Probability Values (p)

Interpretation of 2: Examine the Probability Table

The rows represent the degrees of freedom
Degrees of freedom equals the number of phenotypic categories 1
critical value

This column tells us : the probability is 0.05 of obtaining a 2 value of 3.841 or greater by chance alone cannot reject hypothesis - if p<0.05, there is nonrandom error, and we have to propose another hypothesis

Interpret the Data

F2 chi-square calculations 3:1 ratio - 2 = 0.60 2:1 ratio - 2 = 244.45 Interpret the 2 using the Probability table
critical value

p 0.05 : do not reject the hypothesis p < 0.05 : reject the hypothesis