His work laid the foundation for modern

genetics.
Lesson 1: Mendelian Genetics

Introduction to Genetics
Mendel’s Experiments with Pea Plants
Genetics is the study of heredity—how traits are
passed from parents to offspring. Before Gregor Why did Mendel use pea plants?
Mendel’s discoveries, there were two main ideas
Mendel chose pea plants because:
about inheritance:
1. They had observable traits (like flower
1. Blending Hypothesis:
color, seed shape, etc.) that came in two
o This theory suggested that distinct forms.
offspring are a mix of their parents’
2. They had a short generation time (they
traits.
grow fast).
o Example: If a tall parent and a
3. They produced many offspring per
short parent had a child, the child
mating.
would be of medium height.
4. He could control their mating (he could
o This idea is similar to mixing
prevent natural pollination and cross-
paint—blue and yellow make
pollinate them himself).
green.
How did Mendel conduct his experiments?
o However, if this were true, over
time, everyone in a population • He cross-pollinated plants with different
would look the same, which is not traits.
the case.
• He first studied one trait at a time to see
2. Particulate Inheritance Hypothesis: how it was inherited.

o Proposed that traits are inherited Example: Flower color (Purple vs. White)
as discrete units (now known as
• P Generation (Parent Generation):
genes).
Mendel crossed true-breeding purple-
o These units retain their identities flowered plants with true-breeding white-
across generations instead of flowered plants.
blending together.
• F1 Generation (First Filial Generation):
o Example: A child of a tall and short All offspring had purple flowers (no white
parent could be either tall, short, ones!).
or something in between, but the
• F2 Generation (Second Filial
traits remain separate in the next
Generation): When the F1 plants self-
generations.
pollinated, ¾ of the offspring had purple
Gregor Mendel, an Austrian monk, tested this flowers, and ¼ had white flowers.
hypothesis by experimenting with pea plants.
Results:
Mendel realized that the white flower trait didn’t • Genes for different traits (like flower color
disappear—it was just masked in the F1 and seed shape) sort independently
generation and reappeared in F2. during gamete formation.

• This means that the inheritance of one

trait doesn’t affect the inheritance of
Mendel’s Laws of Inheritance
another.
1. Law of Segregation
Example:
• Each organism has two copies of a gene If you cross plants with yellow, round seeds
(one from each parent). (YYRR) and green, wrinkled seeds (yyrr), the F1
• During gamete formation (sperm & egg generation will all be YyRr.
production), these copies separate so In the F2 generation, traits will appear in a
that each gamete gets only one copy. 9:3:3:1 ratio:

• This explains why white flowers • 9 yellow round

reappeared in F2—some plants inherited • 3 yellow wrinkled
two white alleles.
• 3 green round
Example using Punnett Square:
• 1 green wrinkled
If "P" represents the dominant purple allele and
"p" represents the recessive white allele:

P P Additional Concepts

P PP PP Dominant and Recessive Alleles

• Dominant allele (capital letter): Always

p Pp Pp
expressed if present (e.g., "P" for purple
• The F1 generation was all "Pp" flowers).
(heterozygous), so they looked purple.
• Recessive allele (lowercase letter): Only
• When these plants self-pollinated, the F2 expressed if both copies are recessive
generation looked like this: (e.g., "p" for white flowers).

P• p Homozygous vs. Heterozygous

• Homozygous (purebred): Two identical

P PP Pp
alleles (PP or pp).
p Pp pp
• Heterozygous (hybrid): One dominant
• 3 purple (PP, Pp, Pp) : 1 white (pp) and one recessive allele (Pp).

• This explains the 3:1 ratio seen in Phenotype vs. Genotype

Mendel’s experiments. • Genotype: Genetic makeup (PP, Pp, or
2. Law of Independent Assortment pp).
 • Phenotype: Physical appearance (Purple Sometimes, inheritance deviates from
or White). Mendelian patterns due to:

Test Cross 1. Different types of dominance

(incomplete dominance & codominance).
A test cross is used to determine an unknown
genotype. 2. More than two alleles for a gene
(multiple alleles).
• Example: If a plant has purple flowers, is
it PP or Pp? 3. One gene affecting multiple traits
(pleiotropy).
• Cross it with a white-flowered plant (pp).
1. Degrees of Dominance
o If all offspring are purple, the
unknown plant was PP. Mendel believed that traits were either dominant
or recessive, but in reality, dominance is more
o If some offspring are white, the
complex. There are three types:
unknown plant was Pp.
A. Complete Dominance

• This follows Mendel’s laws.

Key Takeaways from Lesson 1
• The dominant allele fully masks the
Traits are inherited in predictable ways.
recessive one.
Dominant traits mask recessive traits.
Organisms carry two copies of each gene • Example: In pea plants, purple flowers (P)
(one from each parent). are completely dominant over white
flowers (p). So, Pp plants are still purple.
During reproduction, these copies separate
and are passed on independently. B. Incomplete Dominance (Blended Traits)

• Neither allele is fully dominant, so the

heterozygote has a blended phenotype.

• Example: Red × White Flowers → Pink

Flowers
Lesson 2: Non-Mendelian Genetics
o RR (Red) × rr (White) = Rr (Pink)
What is Non-Mendelian Genetics?
• In F2 (self-pollination of pink flowers), the
While Mendel’s laws explain many patterns of 1:2:1 ratio appears:
inheritance, not all traits follow his rules. Some
o 1 Red (RR), 2 Pink (Rr), 1 White
traits do not have clear dominant and recessive
(rr)
alleles or are influenced by multiple genes.
These exceptions are part of Non-Mendelian This disproves the Blending Hypothesis! If
Genetics. blending was true, the red and white colors
would never reappear in later generations.

Extending Mendelian Genetics for a Single C. Codominance (Both Traits Are Fully
Gene Expressed)
 • Both alleles are expressed o Caused by a mutation in the
simultaneously in heterozygotes. hemoglobin gene.

• Example: Blood Type AB o Affects oxygen transport and

causes multiple symptoms:
o The A allele (IA) and B allele (IB)
are both dominant, so if a person ▪ Pain episodes
inherits both, their blood type is AB
▪ Organ damage
(both A and B molecules appear on
red blood cells). ▪ Resistance to malaria
(people with one sickle cell
allele are less likely to get
2. Multiple Alleles (More Than Two Versions of malaria).
a Gene)
This shows that a single mutation can have
Most genes have more than two alleles in a widespread effects on the body!
population.

Example: ABO Blood Group System

Extending Mendelian Genetics for Two or More
• There are three alleles for blood type: Genes
o IA (Type A) Sometimes, two or more genes interact to
determine a trait.
o IB (Type B)
1. Epistasis (One Gene Controls Another
o i (Type O, recessive)
Gene)
• The possible blood types are:
• One gene hides or modifies the
Genotype Blood Type expression of another gene.

IAIA or IAi Type A • Example: Labrador Retriever Coat Color

IBIB or IBi Type B o There are two genes involved:

1. B gene (Black or Brown

IAIB Type AB (Codominant)
fur)
ii Type O ▪ B (black) is dominant
People with Type O (ii) are universal donors, ▪ b (brown) is recessive
while those with AB (IAIB) are universal
2. E gene (Determines if
recipients!
color is deposited in fur)

▪ E (color shows)
3. Pleiotropy (One Gene, Many Effects)
▪ e (color doesn’t show,
• Some genes affect more than one trait. making the dog yellow)
• Example: Sickle Cell Disease
Genotype Coat Color This shows that genetics alone doesn’t
determine everything—our surroundings play a
BBEE, BbEE, BBEe, BbEe Black big role too!
bbEE, bbEe Brown

BBee, Bbee, bbee Yellow (No pigment) Key Takeaways from Lesson 2

Even if a dog has the "black" allele (B), if it has Some traits don’t follow simple
"ee," it will still be yellow! dominant/recessive patterns.
Incomplete dominance = blended traits.
Codominance = both traits appear fully.
2. Polygenic Inheritance (Many Genes Affect Pleiotropy = one gene affects multiple traits.
One Trait) Epistasis = one gene controls another.
• Multiple genes contribute to a single Polygenic inheritance = multiple genes
trait. influence a trait.
Environment affects genes!
• Example: Skin Color, Height, Eye Color

o More dominant alleles = darker

skin, taller height, etc.

o More recessive alleles = lighter

skin, shorter height, etc.
Lesson 3: Sex Linkage
• Follows a bell curve pattern—most
What is Sex Linkage?
people have an average trait, and extreme
traits are rare. Unlike the traits studied by Mendel (which are
found on non-sex chromosomes, or
autosomes), some traits are linked to the sex
Nature vs. Nurture (Environmental Influence chromosomes (X and Y). This leads to unique
on Genes) patterns of inheritance, which we will explore in
this lesson.
• Phenotype = Genes + Environment

• Example: Identical Twins

I. Locating Genes Along Chromosomes
o Genetically identical, but can look
different due to lifestyle choices. • Each gene has a specific location (locus)
on a chromosome.
• Example: Plant Leaves
• Scientists can see genes by tagging
o Same tree, but leaves exposed to
chromosomes with a fluorescent dye.
more sunlight will be darker
green. This allowed geneticists to determine that
genes are located on chromosomes, confirming
Mendel’s ideas about inheritance.
 Conclusion:

II. Chromosome Theory of Inheritance • The gene for eye color is located on the X
chromosome.
Developed in 1902 by Sutton and Boveri, this
theory states: • Since males only have one X
chromosome, they only need one copy
1. Genes are located on chromosomes.
of the white-eye allele to express the
2. Chromosomes follow Mendel’s laws trait.
(they segregate and assort independently
This was the first evidence that specific genes
during meiosis).
are located on specific chromosomes!
This theory helped scientists understand how
traits are passed down from parents to offspring
at the chromosomal level! IV. Sex Determination in Humans

A. The Role of X and Y Chromosomes

III. Morgan’s Experiments with Fruit Flies • Humans have 23 pairs of chromosomes:

Thomas Hunt Morgan, an American geneticist, o 22 pairs of autosomes (non-sex

proved that genes are located on chromosomes chromosomes).
by studying fruit flies (Drosophila
o 1 pair of sex chromosomes (XX or
melanogaster).
XY).
Why did Morgan use fruit flies?
Sex Chromosome Biological
1. Fast reproduction (new generation every Combination Sex
2 weeks).
XX Female
2. Large number of offspring.
XY Male
3. Only 4 pairs of chromosomes (easy to
study). • Females only pass X chromosomes to
offspring.
4. Easily observable traits (like eye color
and wing shape). • Males pass either X or Y:
Morgan’s Discovery: Eye Color and Sex o Sperm carrying X → Female (XX)
Linkage
o Sperm carrying Y → Male (XY)
• Morgan crossed red-eyed (wild-type)
B. The SRY Gene (Sex-determining Region on
female flies with white-eyed (mutant)
the Y Chromosome)
male flies.
• Found only on the Y chromosome.
• F1 Generation: All flies had red eyes.
• Triggers testes development in males.
• F2 Generation: White-eyed flies
reappeared, but only in males. • If SRY is not present, the embryo
develops as female.
 This means that the presence of a Y o Blood clotting disorder (bleeding
chromosome (not just having two Xs) determines lasts longer because the blood
male development! doesn’t clot properly).

Males inherit these disorders from their

mothers, since fathers only pass Y
V. X-Linked Genes (Traits Carried on the X
chromosomes to sons!
Chromosome)

Since males only have one X chromosome,

they: VI. X-Inactivation in Female Mammals (Barr
Bodies)
1. Inherit X-linked traits directly from their
mother. Since females have two X chromosomes, one is
randomly inactivated in each cell during
2. Cannot be carriers—if they inherit a
embryonic development.
recessive X-linked trait, they will express
it. A. What Happens in X-Inactivation?

A. Patterns of X-Linked Inheritance 1. One X chromosome becomes inactive

and forms a Barr body.
• Fathers pass X-linked genes to ALL
daughters but NO sons. 2. This ensures that males and females have
equal gene expression from the X
• Mothers pass X-linked genes to BOTH
chromosome.
sons and daughters.
3. The inactivation is random in each cell,
B. X-Linked Recessive Disorders
leading to mosaic expression.
These disorders are more common in males
B. Example: Tortoiseshell Cats
since they only need one copy to express the
trait. • Fur color in cats is X-linked.

Examples of X-Linked Recessive Disorders: • One X chromosome has the black fur
allele, and the other has the orange fur
1. Color Blindness
allele.
o Inability to distinguish certain
• In female cats, some cells inactivate the
colors (red-green is the most
black allele, while others inactivate the
common).
orange allele, creating a mosaic (patchy
2. Duchenne Muscular Dystrophy fur color).

o Weakening of muscles due to a This is why tortoiseshell cats are almost

missing protein called dystrophin. always female!
o Affects boys, and symptoms
appear by early childhood.
VII. Genetic Recombination & Linkage
3. Hemophilia
A. What is Genetic Recombination?
 • Crossing over during meiosis causes new o Causes reduced fertility and
combinations of genes. some feminine traits.

• This explains why offspring can have 3. Turner Syndrome (XO)

traits different from their parents.
o Females have only one X
B. Linked Genes vs. Unlinked Genes chromosome.

• Linked genes are close together on the o Causes short stature and
same chromosome and tend to be infertility.
inherited together.
Nondisjunction disorders often lead to
• Unlinked genes are far apart or on miscarriages, but some individuals survive with
different chromosomes and assort specific symptoms!
independently.

Recombination helps increase genetic

Key Takeaways from Lesson 3
variation!
Sex chromosomes (X & Y) determine
biological sex.
VIII. Chromosomal Disorders (Caused by Males (XY) are more likely to inherit X-
Abnormal Chromosome Number) linked disorders.
Sometimes, errors occur during meiosis, leading X-inactivation in females leads to mosaic
to too many or too few chromosomes. expression (e.g., tortoiseshell cats).
Recombination increases genetic
A. Nondisjunction (Failure of Chromosomes to
diversity.
Separate)
Chromosomal disorders result from errors
• Happens in meiosis when in meiosis (nondisjunction).
chromosomes don’t separate properly.

• Results in gametes with extra or missing

chromosomes.

B. Disorders Caused by Nondisjunction

1. Down Syndrome (Trisomy 21)

o Extra copy of chromosome 21.

o Causes developmental delays and

characteristic facial features.

2. Klinefelter Syndrome (XXY)

o Males have an extra X

chromosome.