Mendelian Genetics • Homozygous – two alleles of trait are the same (YY

or yy)
Gregor Johann Mendel (1822-1884) • Heterozygous – two alleles of trait are different (Yy)
• Capitalized traits = dominant phenotypes
• Augustinian monk, Czech Republic • Lowercase traits = recessive phenotypes
• He laid the foundation of modern genetics • Generations:
• Studied segregation of traits in the garden pea ➢ P = parental generation
(Pisum sativum) beginning in 1854 ➢ F1 = 1st filial generation, progeny of the P
• Published his theory of inheritance in 1865. generation
“Experiments in Plant Hybridization” ➢ F2 = 2nd filial generation, progeny of the F1
• Mendel’s work was “rediscovered” in 1902 generation (F3 and so on)
• “Characters,” or what we now call alleles, were • Crosses:
inherited unchanged. This observation and the ➢ Monohybrid cross = cross of two different true-
pattern of inheritance of these characters gave us breeding strains (homozygotes) that differ in a
the first definition of a gene. single trait.
➢ Dihybrid cross = cross of two different true-
Themes of Mendel’s Work breeding trains (homozygotes) that differ in
• Variation is widespread in nature two traits.
• 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

Mendel’s Experimental, Quantitative Approach

• Mendel used the scientific approach to identify two

laws of inheritance
• Mendel discovered the basic principles of heredity
by breeding garden peas in carefully planned
experiments
• Mendel chose to work with the garden pea (Pisum Mendel’s Experimental Design
sativum)
➢ Because they are available in many varieties, • In a typical breeding experiment Mendel mated two
easy to grow, easy to get large numbers contrasting, true-breeding varieties, a process
➢ Because he could strictly control which plants called hybridization
mated with which • The true-breeding parents are called the P
generation
Mendel’s Experimental Design • The hybrid offspring of the P generation are called
• Statistical analyses: the F1 generation
➢ Worked with large numbers of plants • When F1 individuals self-pollinate the F2 generation
➢ counted all offspring is produced
➢ made predictions and tested them Mendel’s Observation
• Excellent experimentalist
➢ controlled growth conditions • When Mendel crossed contrasting, true-breeding
➢ focused on traits that were easy to score white and purple flowered pea plants all of the
➢ chose to track only those characters that varied offspring were purple
in an “either-or” manner • When Mendel crossed the F1 plants, many of the
plants had purple flowers, but some had white
Genetic Vocabulary flowers
• Character: a heritable feature, such as flower color • A ratio of about three to one, purple to white
• Trait: a variant of a character, such as purple or flowers, in the F2 generation
white flowers
• 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.
• Phenotype – observable characteristic of an
organism
• Genotype – pair of alleles present in an individual
Mendel’s Rationale Phenotype VS. Genotype

• In the F1 plants, only the purple trait was affecting

flower color in these hybrids.
• Purple flower color was dominant, and white flower
color was recessive
• Mendel developed a hypothesis to explain the 3:1
inheritance pattern that he observed among the F2
offspring.

Heredity Concepts

1. Alternative versions of genes account for variations in

inherited characters, which are now called alleles

2. For each character an organism inherits two alleles, one Testcross

from each parent, A genetic locus is actually represented
• Allows us to determine the genotype of an organism
twice
with the dominant phenotype, but unknown genotype
3. If the two alleles at a locus differ, the dominant allele • Crosses an individual with the dominant phenotype with
determines the organism’s appearance an individual that is homozygous recessive for a trait

4. The law of segregation - the two alleles for a heritable To determine whether an individual with a dominant
character separate (segregate) during gamete formation and phenotype is homozygous for the dominant allele or
end up in different gametes heterozygous, Mendel crossed the individual in question
with an individual that had the recessive phenotype:
- Mechanism of Gene transmission

Punnett's Square is a way to determine ways traits can

segregate

Mendel’s Law of segregation, probability and the Punnett

square
The Law of Independent Assortment

• Mendel derived the law of segregation by following a

single trait
➢ 2 alleles at a single gene locus segregate when the
gametes are formed
➢ The F1 offspring produced in this cross were
monohybrids, heterozygous for one character
• Mendel identified his second law of inheritance by
following two characters at the same time
➢ Mendel was interested in determining whether
alleles at 2 different gene loci segregate
dependently or independently
➢ Crossing two, true-breeding parents differing in two
characters produces dihybrids in the F1 generation,
heterozygous for both characters

Dihybrid Cross

➢ With his monohybrid crosses, Mendel determined

that the 2 alleles at a single gene locus segregate
when the gametes are formed.
 ➢ With his dihybrid crosses, Mendel was interested in
determining whether alleles at 2 different gene loci
segregate dependently or independently.
➢ For example, in pea plants seed shape is controlled
by one gene locus where round (R) is dominant to
wrinkled (r) while seed color is controlled by a
different gene locus where yellow (Y) is dominant to
green (y).
➢ Mendel crossed 2 pure-breeding plants: one with
round yellow seeds and the other with green
wrinkled seeds.

Dependent Segregation

• If dependent segregation (assortment) occurs:

➢ Alleles at the 2 gene loci segregate together, and are
transmitted as a unit.
➢ Therefore, each plant would only produce gametes
with the same combinations of alleles present in the
gametes inherited from its parents:

A dihybrid cross

➢ Illustrates the inheritance of two characters

➢ Produces four phenotypes in the F2 generation

Independent Segregation

Alleles at the 2 gene loci segregate (separate) independently,

and are NOT transmitted as a unit. Therefore, each plant
would produce gametes with allele combinations that were
not present in the gametes inherited from its parents:

Law of probability govern mendelian inheritance

Mendel’s laws of segregation and independent assortment

reflect the rules of probability
The multiplication rule Type of polygenic inheritance where the alleles at one gene
locus can hide or prevent the expression of alleles at a
➢ States that the probability that two or more second gene locus.
independent events will occur together is the
product of their individual probabilities Labrador retrievers one gene locus affects coat color by
controlling how densely the pigment eumelanin is deposited
The rule of addition in the fur.
➢ States that the probability that any one of two or A dominant allele (B) produces a black coat while the
more exclusive events will occur is calculated by recessive allele (b) produces a brown coat
adding together their individual probabilities
However, a second gene locus controls whether any
Probability in a Monohybrid Cross eumelanin at all is deposited in the fur. Dogs that are
Can be determined using these rules (toss coins) homozygous recessive at this locus (ee) will have yellow fur
no matter which alleles are at the first locus:
Summary of Mendel’s Principles
• Pleiotropy
Mendel’s Principle of Uniformity in F1:
This is when a single gene locus affects more than one trait.
➢ F1 offspring of a monohybrid cross of true-breeding
strains resemble only one of the parents. For example, in Labrador retrievers the gene locus that
➢ Why? Smooth seeds (allele S) are completely controls how dark the pigment in the hair will be also affects
dominant to wrinkled seeds (alleles). the color of the nose, lips, and eye rims.

Mendel’s Law of Segregation: • Environmental effects on gene expression

➢ Recessive characters masked in the F1 progeny of The phenotype of an organism depends not only on which
two true- breeding strains, reappear in a specific genes it has (genotype), but also on the environment under
proportion of the F2 progeny. which it develops.
➢ Two members of a gene pair segregate (separate)
from each other during the formation of gametes.
Although scientists agree that phenotype depends on a
Mendel’s Law of Independent Assortment:
complex interaction between genotype and environment,
➢ Alleles for different traits assort independently of there is a lot of debate and controversy about the relative
one another. importance of these 2 factors, particularly for complex
➢ Genes on different chromosomes behave human traits.
independently in gamete production.
• Sex linkage
Exceptions to Mendel’s Original Principles

• Incomplete dominance

Neither allele is dominant and heterozygous individuals

have an intermediate phenotype

For example, in Japanese “Four o’clock”, plants with one

red allele and one white allele have pink flowers:

• Codominance

Neither allele is dominant and both alleles are expressed in

heterozygous individuals

Example ABO blood types

• Multiple alleles
• Polygenic traits

Most traits are not controlled by a single gene locus, but by

the combined interaction of many gene loci. These are called
polygenic traits.

Polygenic traits often show continuous variation, rather

than a few discrete forms:

• Epistasis