Gregor Mendel, an Austrian monk, tested

this hypothesis by experimenting with

Lesson 1: Mendelian Genetics
pea plants. His work laid the foundation
Introduction to Genetics for modern genetics.

Genetics is the study of heredity—how

traits are passed from parents to
Mendel’s Experiments with Pea
offspring. Before Gregor Mendel’s
Plants
discoveries, there were two main ideas
about inheritance: Why did Mendel use pea plants?

1. Blending Hypothesis: Mendel chose pea plants because:

o This theory suggested that 1. They had observable traits (like

offspring are a mix of their flower color, seed shape, etc.) that
parents’ traits. came in two distinct forms.

o Example: If a tall parent and 2. They had a short generation

a short parent had a child, time (they grow fast).
the child would be of medium
3. They produced many offspring
height.
per mating.
o This idea is similar to mixing
4. He could control their mating
paint—blue and yellow make
(he could prevent natural
green.
pollination and cross-pollinate them
o However, if this were true, himself).
over time, everyone in a
How did Mendel conduct his
population would look the
experiments?
same, which is not the case.
 He cross-pollinated plants with
2. Particulate Inheritance
different traits.
Hypothesis:
 He first studied one trait at a time
o Proposed that traits are
to see how it was inherited.
inherited as discrete units
(now known as genes). Example: Flower color (Purple vs.
White)
o These units retain their
identities across generations  P Generation (Parent
instead of blending together. Generation): Mendel crossed true-
breeding purple-flowered plants
o Example: A child of a tall and
with true-breeding white-flowered
short parent could be either
plants.
tall, short, or something in
between, but the traits  F1 Generation (First Filial
remain separate in the next Generation): All offspring had
generations. purple flowers (no white ones!).
  F2 Generation (Second Filial 
P p
Generation): When the F1 plants
self-pollinated, ¾ of the offspring
had purple flowers, and ¼ had P PP Pp
white flowers. p Pp pp
Results:  3 purple (PP, Pp, Pp) : 1 white
Mendel realized that the white flower (pp)
trait didn’t disappear—it was just  This explains the 3:1 ratio seen in
masked in the F1 generation and Mendel’s experiments.
reappeared in F2.
2. Law of Independent Assortment

 Genes for different traits (like

Mendel’s Laws of Inheritance flower color and seed shape) sort
1. Law of Segregation independently during gamete
formation.
 Each organism has two copies of
a gene (one from each parent).  This means that the inheritance of
one trait doesn’t affect the
 During gamete formation (sperm inheritance of another.
& egg production), these copies
separate so that each gamete 💡 Example:
gets only one copy. If you cross plants with yellow, round
seeds (YYRR) and green, wrinkled
 This explains why white flowers seeds (yyrr), the F1 generation will all
reappeared in F2—some plants be YyRr.
inherited two white alleles. In the F2 generation, traits will appear in
💡 Example using Punnett Square: a 9:3:3:1 ratio:
If "P" represents the dominant purple  9 yellow round
allele and "p" represents the recessive
white allele:  3 yellow wrinkled

P P  3 green round

P PP PP  1 green wrinkled

p Pp Pp
Additional Concepts
 The F1 generation was all "Pp"
(heterozygous), so they looked Dominant and Recessive Alleles
purple.
 Dominant allele (capital letter):
 When these plants self-pollinated, Always expressed if present (e.g.,
the F2 generation looked like this: "P" for purple flowers).

 Recessive allele (lowercase

letter): Only expressed if both
 copies are recessive (e.g., "p" for
white flowers).

Homozygous vs. Heterozygous

Lesson 2: Non-Mendelian Genetics
 Homozygous (purebred): Two
What is Non-Mendelian Genetics?
identical alleles (PP or pp).
While Mendel’s laws explain many
 Heterozygous (hybrid): One
patterns of inheritance, not all traits
dominant and one recessive allele
follow his rules. Some traits do not
(Pp).
have clear dominant and recessive
Phenotype vs. Genotype alleles or are influenced by multiple
genes. These exceptions are part of Non-
 Genotype: Genetic makeup (PP,
Mendelian Genetics.
Pp, or pp).

 Phenotype: Physical appearance

(Purple or White). Extending Mendelian Genetics for a
Single Gene
Test Cross
Sometimes, inheritance deviates from
A test cross is used to determine an
Mendelian patterns due to:
unknown genotype.
1. Different types of dominance
 Example: If a plant has purple
(incomplete dominance &
flowers, is it PP or Pp?
codominance).
 Cross it with a white-flowered
2. More than two alleles for a
plant (pp).
gene (multiple alleles).
o If all offspring are purple, the
3. One gene affecting multiple
unknown plant was PP.
traits (pleiotropy).
o If some offspring are white,
1. Degrees of Dominance
the unknown plant was Pp.
Mendel believed that traits were either
dominant or recessive, but in reality,
Key Takeaways from Lesson 1 dominance is more complex. There are
three types:
✅ Traits are inherited in predictable
ways. A. Complete Dominance
✅ Dominant traits mask recessive
 This follows Mendel’s laws.
traits.
✅ Organisms carry two copies of each  The dominant allele fully masks
gene (one from each parent). the recessive one.
✅ During reproduction, these copies
 Example: In pea plants, purple
separate and are passed on
flowers (P) are completely
independently.
dominant over white flowers (p).
So, Pp plants are still purple.
B. Incomplete Dominance (Blended o IA (Type A)
Traits)
o IB (Type B)
 Neither allele is fully dominant,
o i (Type O, recessive)
so the heterozygote has a blended
phenotype.  The possible blood types are:
 Example: Red × White Flowers Genoty
Blood Type
→ Pink Flowers pe
o RR (Red) × rr (White) = Rr IAIA or
(Pink) Type A
IAi
 In F2 (self-pollination of pink IBIB or
flowers), the 1:2:1 ratio appears: Type B
IBi
o 1 Red (RR), 2 Pink (Rr), 1 Type AB
White (rr) IAIB
(Codominant)
💡 This disproves the Blending
ii Type O
Hypothesis! If blending was true, the red
and white colors would never reappear in 💡 People with Type O (ii) are universal
later generations. donors, while those with AB (IAIB) are
universal recipients!
C. Codominance (Both Traits Are
Fully Expressed)

 Both alleles are expressed 3. Pleiotropy (One Gene, Many

simultaneously in heterozygotes. Effects)

 Example: Blood Type AB  Some genes affect more than one

trait.
o The A allele (IA) and B
allele (IB) are both  Example: Sickle Cell Disease
dominant, so if a person
o Caused by a mutation in
inherits both, their blood type
the hemoglobin gene.
is AB (both A and B
molecules appear on red o Affects oxygen transport
blood cells). and causes multiple
symptoms:

 Pain episodes
2. Multiple Alleles (More Than Two
Versions of a Gene)  Organ damage

Most genes have more than two alleles  Resistance to

in a population. malaria (people with
one sickle cell allele are
Example: ABO Blood Group System
less likely to get
 There are three alleles for blood malaria).
type:
💡 This shows that a single mutation can
have widespread effects on the body!
2. Polygenic Inheritance (Many
Genes Affect One Trait)

Extending Mendelian Genetics for  Multiple genes contribute to a

Two or More Genes single trait.

Sometimes, two or more genes  Example: Skin Color, Height,

interact to determine a trait. Eye Color

1. Epistasis (One Gene Controls o More dominant alleles =

Another Gene) darker skin, taller height,
etc.
 One gene hides or modifies the
expression of another gene. o More recessive alleles =
lighter skin, shorter
 Example: Labrador Retriever
height, etc.
Coat Color
 Follows a bell curve pattern—
o There are two genes
most people have an average trait,
involved:
and extreme traits are rare.
1. B gene (Black or
Brown fur)
Nature vs. Nurture (Environmental
 B (black) is dominant
Influence on Genes)
 b (brown) is
 Phenotype = Genes +
recessive
Environment
2. E gene (Determines
 Example: Identical Twins
if color is deposited
in fur) o Genetically identical, but can
look different due to
 E (color shows)
lifestyle choices.
 e (color doesn’t
 Example: Plant Leaves
show, making the
dog yellow) o Same tree, but leaves
exposed to more sunlight
Genotype Coat Color
will be darker green.
BBEE, BbEE, BBEe,
Black 💡 This shows that genetics alone doesn’t
BbEe
determine everything—our surroundings
bbEE, bbEe Brown play a big role too!

Yellow (No
BBee, Bbee, bbee
pigment) Key Takeaways from Lesson 2
💡 Even if a dog has the "black" allele (B), ✅ Some traits don’t follow simple
if it has "ee," it will still be yellow! dominant/recessive patterns.
✅ Incomplete dominance = blended Developed in 1902 by Sutton and
traits. Boveri, this theory states:
✅ Codominance = both traits appear
1. Genes are located on
fully.
chromosomes.
✅ Pleiotropy = one gene affects multiple
traits. 2. Chromosomes follow Mendel’s
✅ Epistasis = one gene controls another. laws (they segregate and assort
✅ Polygenic inheritance = multiple independently during meiosis).
genes influence a trait.
💡 This theory helped scientists
✅ Environment affects genes!
understand how traits are passed down
from parents to offspring at the
chromosomal level!

III. Morgan’s Experiments with Fruit

Lesson 3: Sex Linkage
Flies
What is Sex Linkage?
Thomas Hunt Morgan, an American
Unlike the traits studied by Mendel geneticist, proved that genes are
(which are found on non-sex located on chromosomes by studying
chromosomes, or autosomes), some fruit flies (Drosophila melanogaster).
traits are linked to the sex
Why did Morgan use fruit flies?
chromosomes (X and Y). This leads to
unique patterns of inheritance, which we 1. Fast reproduction (new
will explore in this lesson. generation every 2 weeks).

2. Large number of offspring.

I. Locating Genes Along 3. Only 4 pairs of chromosomes

Chromosomes (easy to study).

 Each gene has a specific location 4. Easily observable traits (like eye
(locus) on a chromosome. color and wing shape).

 Scientists can see genes by Morgan’s Discovery: Eye Color and

tagging chromosomes with a Sex Linkage
fluorescent dye.
 Morgan crossed red-eyed (wild-
💡 This allowed geneticists to determine type) female flies with white-
that genes are located on chromosomes, eyed (mutant) male flies.
confirming Mendel’s ideas about
 F1 Generation: All flies had red
inheritance.
eyes.

 F2 Generation: White-eyed flies

II. Chromosome Theory of reappeared, but only in males.
Inheritance
Conclusion:
  The gene for eye color is located on  If SRY is not present, the embryo
the X chromosome. develops as female.

 Since males only have one X 💡 This means that the presence of a Y
chromosome, they only need one chromosome (not just having two Xs)
copy of the white-eye allele to determines male development!
express the trait.

💡 This was the first evidence that specific

V. X-Linked Genes (Traits Carried on
genes are located on specific
the X Chromosome)
chromosomes!
Since males only have one X
chromosome, they:
IV. Sex Determination in Humans
1. Inherit X-linked traits directly
A. The Role of X and Y Chromosomes from their mother.

 Humans have 23 pairs of 2. Cannot be carriers—if they

chromosomes: inherit a recessive X-linked trait,
they will express it.
o 22 pairs of autosomes
(non-sex chromosomes). A. Patterns of X-Linked Inheritance

o 1 pair of sex  Fathers pass X-linked genes to

chromosomes (XX or XY). ALL daughters but NO sons.

Sex Chromosome Biological  Mothers pass X-linked genes to

Combination Sex BOTH sons and daughters.

XX Female B. X-Linked Recessive Disorders

XY Male These disorders are more common in

males since they only need one copy to
 Females only pass X express the trait.
chromosomes to offspring.
Examples of X-Linked Recessive
 Males pass either X or Y: Disorders:
o Sperm carrying X → 1. Color Blindness
Female (XX)
o Inability to distinguish certain
o Sperm carrying Y → Male colors (red-green is the most
(XY) common).
B. The SRY Gene (Sex-determining 2. Duchenne Muscular Dystrophy
Region on the Y Chromosome)
o Weakening of muscles due to
 Found only on the Y a missing protein called
chromosome. dystrophin.
 Triggers testes development in o Affects boys, and symptoms
males. appear by early childhood.
 3. Hemophilia

o Blood clotting disorder VII. Genetic Recombination &

(bleeding lasts longer Linkage
because the blood doesn’t
A. What is Genetic Recombination?
clot properly).
 Crossing over during meiosis
💡 Males inherit these disorders from their
causes new combinations of genes.
mothers, since fathers only pass Y
chromosomes to sons!  This explains why offspring can
have traits different from their
parents.
VI. X-Inactivation in Female
B. Linked Genes vs. Unlinked Genes
Mammals (Barr Bodies)
 Linked genes are close together
Since females have two X
on the same chromosome and
chromosomes, one is randomly
tend to be inherited together.
inactivated in each cell during
embryonic development.  Unlinked genes are far apart or
on different chromosomes and
A. What Happens in X-Inactivation?
assort independently.
1. One X chromosome becomes
💡 Recombination helps increase genetic
inactive and forms a Barr body.
variation!
2. This ensures that males and
females have equal gene
expression from the X VIII. Chromosomal Disorders (Caused
chromosome. by Abnormal Chromosome Number)

3. The inactivation is random in each Sometimes, errors occur during meiosis,

cell, leading to mosaic leading to too many or too few
expression. chromosomes.

B. Example: Tortoiseshell Cats A. Nondisjunction (Failure of

Chromosomes to Separate)
 Fur color in cats is X-linked.
 Happens in meiosis when
 One X chromosome has the black
chromosomes don’t separate
fur allele, and the other has the
properly.
orange fur allele.
 Results in gametes with extra or
 In female cats, some cells
missing chromosomes.
inactivate the black allele, while
others inactivate the orange B. Disorders Caused by
allele, creating a mosaic (patchy Nondisjunction
fur color).
1. Down Syndrome (Trisomy 21)
💡 This is why tortoiseshell cats are
o Extra copy of chromosome
almost always female!
21.
 o Causes developmental delays
and characteristic facial
features.

2. Klinefelter Syndrome (XXY)

o Males have an extra X

chromosome.

o Causes reduced fertility

and some feminine traits.

3. Turner Syndrome (XO)

o Females have only one X

chromosome.

o Causes short stature and

infertility.

💡 Nondisjunction disorders often lead to

miscarriages, but some individuals
survive with specific symptoms!

Key Takeaways from Lesson 3

✅ Sex chromosomes (X & Y)

determine biological sex.
✅ Males (XY) are more likely to
inherit X-linked disorders.
✅ X-inactivation in females leads to
mosaic expression (e.g.,
tortoiseshell cats).
✅ Recombination increases genetic
diversity.
✅ Chromosomal disorders result from
errors in meiosis (nondisjunction).