DEPARTMENT OF MEDICAL TECHNOLOGY

INSTITUTE OF ARTS AND SCIENCES

FAR EASTERN UNIVERSITY

Inheritance:
Basic Laws and
Test Cross
Prepared by:
Angelo Balcita RMT, ASCPI (CM), MSMT

© McGraw-Hill Education. All rights reserved. Authorized only for instructor use in the classroom. No reproduction or further
distribution permitted without the prior written consent of McGraw-Hill Education.
1. What is the genotype of a person
with blood type O?
A. AO
B. AA
C. OO
D. BO
2. A person with genotype AO has
which blood type?
A. Blood type O
B. Blood type A
C. Blood type AB
D. Blood type B
3. What blood types are possible if the
cross is AO × OO?
A. All type A
B. Type A and Type O
C. Type B only
D. Type AB only
4. In the cross AO × AO, what is the
phenotypic ratio of the offspring?
A. 1 A : 1 O
B. All O
C. 1 O : 3 A
D. 3 A : 1 O
5. Which Punnett square genotype
represents blood type O?
A. OA
B. OB
C. AB
D. OO
6. If one parent is blood type A (AO) and
the other is blood type A (AO), what
percentage of children may have blood
type O?
A. 0%
B. 50%
C. 25%
D. 75%
7. In a monohybrid blood typing
problem, why is ABO simplified
to A vs O?
A. To study only one gene
B. Because B is recessive
C. Because O is dominant
D. Because AB is ignored
8. Which law explains why A and O
separate during gamete formation?
A. Law of Segregation
B. Law of Independent Assortment
C. Law of Dominance
D. Law of Probability
9. A father is AO and a mother is OO. What
is the chance that their child is blood type
O?
A. 50%
B. 0%
C. 75%
D. 100%
10. Which genotype combination
produces only blood type A
offspring?
A. AO × BO
B. AO × OO
C. AO × AO
D. AA × AA
I. What Is Inheritance?

Inheritance is the process by which traits are passed from parents to

their children through genes.
A trait is a characteristic such as eye color, blood type, or presence
of a disease.
A gene is a unit of heredity made of DNA that carries instructions for
a trait.
Humans inherit one copy of each gene from the mother and one
from the father.
Because of this, humans are diploid, meaning we have two copies of
each gene.
II. Important Basic Terms in Inheritance
1. Gene and Allele

A gene controls a specific trait.

An allele is a different form of the same gene.

Example:
•Gene: eye color
•Alleles: brown (B) and blue (b)
2. Genotype vs Phenotype
Genotype: the genetic makeup (the alleles
you have)
• Example: BB, Bb, bb

Phenotype: the physical appearance or

observable trait
• Example: brown eyes or blue eyes
Chapter 3

Characteristics of a
Single-Gene Disease
• In families the probability can be
deduced by knowing how the affected
person is related to a family member.
• Tests can sometimes predict the risk of
developing symptoms.
• The disease may be much more
common in some populations than
others.
• Some single-gene diseases have modes
of inheritance, such as cystic fibrosis etc.
© McGraw-Hill Education. 4-19
Chapter 3
Modes of inheritance are Following the Inheritance
the patterns in which of One Gene
single-gene traits and
disorders occur in families.

Huntington’s disease is
autosomal dominant.

Cystic fibrosis is
autosomal recessive. © McGraw-Hill Education. 4-20
 Term Definition

The study of heredity and variation, focusing on how traits

Genetics and diseases are passed from parents to offspring through
genes.

The study of the entire genome, including how multiple

Genomics genes interact with each other and with environmental
factors to influence biological traits and disease.

A visual display of an individual’s chromosomes arranged in

Karyotype homologous pairs according to size, shape, and banding
pattern; humans normally have 23 pairs.

Chromosomes that are not involved in determining sex; in

Autosomes humans, chromosomes 1 through 22.

Sex Chromosomes (X and Y) that determine biological sex and

Chromosomes carry genes related to sexual development and other traits.
Term Definition

Alternative forms of the same gene that occupy the same position (locus)
Alleles on homologous chromosomes and contribute to variation in a trait.

Having two identical alleles for a particular gene at a specific locus on

Homozygous homologous chromosomes.

Having two different alleles for a particular gene at a specific locus on

Heterozygous homologous chromosomes.

The specific genetic makeup of an individual, referring to the

Genotype combination of alleles present for one or more genes.

The observable physical traits or clinical characteristics of an individual

Phenotype that result from gene expression and interaction with the environment.
Term Simple Definition
The most common or normal form of a trait seen in most people
Wild Type
or organisms.
A changed form of a gene or trait that is different from the
Mutant
normal type.
Dominant A gene that shows its effect even if there is only one copy of it.

Recessive A gene that shows its effect only if there are two copies of it.
A family chart that shows how traits are passed down through
Pedigree
generations.
When two different genes mix and produce a trait that is in
Incomplete Dominance
between both parents.
When two different genes are both fully shown at the same
Codominance
time.
Wild Type: Wild type refers to a gene, strain or a
characteristic that prevails among the individuals of the
natural population.

Mutant: Mutant refers to an individual who is physically

different from the others of the same population.
3. Homozygous and Heterozygous
•Homozygous: two identical alleles
•BB or bb
•Heterozygous: two different alleles
•Bb
4. Dominant and Recessive Alleles
•Dominant allele: shows its effect even if only one copy is present
•Recessive allele: shows its effect only when two copies are
present
Example:
•B = brown eyes (dominant)
•b = blue eyes (recessive)
Genotypes and phenotypes:
•BB → brown eyes
•Bb → brown eyes
•bb → blue eyes
Chapter 3

© McGraw-Hill Education. 4-29

Chapter 3

© McGraw-Hill Education. 4-30

Chapter 3

© McGraw-Hill Education. 4-31

Chapter 3

© McGraw-Hill Education. 4-32

Chapter 3

© McGraw-Hill Education. 4-33

III. Basic Laws of Inheritance

The basic laws of inheritance explain

how genes behave during reproduction.

These laws form the foundation of

genetics.
Mendel’s Experiments

I. Who Was Mendel?

Gregor Mendel is known as the Father of Genetics.
He was an Austrian monk who studied how traits are passed
from parents to offspring.

Mendel performed experiments in the 1850s–1860s using pea

plants.
From these experiments, he discovered the basic rules of
inheritance that are still used today.
Chapter 3

© McGraw-Hill Education. 4-36

Chapter 3

© McGraw-Hill Education. 4-37

 Law Meaning Example
Naghihiwalay ang pares Kung ang genes ng isang tao ay
Law of ng genes kapag A at a, bawat sperm o egg ay A
Segregation gumagawa ng sperm o lang o a lang — hindi
egg. puwedeng sabay.
Ang gene para sa kulay ng mata ay hindi
Law of Ang genes ng magkaibang nakadepende sa gene para sa taas ng tao.
Independent katangian ay hiwalay na Puwedeng may matangkad na may
kayumangging mata o matangkad na may
Assortment namamana asul na mata—hindi sila magkasama palagi.

Ang malakas (dominant) Kahit may Tall (T) at

Principle of na gene ang lumalabas
Dominance kahit may kasamang
short (t),
mahina (recessive). matangkad ang lalabas.
II. Why Did Mendel Use Pea Plants?
Mendel carefully chose pea plants because they
had many advantages:
[Link] to grow
[Link] life cycle
[Link] many offspring
[Link] are easy to observe
[Link] self-fertilize or be cross-fertilized
[Link] come in clear contrasting forms
Chapter 3
Mendel Studied Transmission of Seven Traits in the
Pea Plant

© McGraw-Hill Education. 4-43

True-Breeding Plants

True-breeding plants always produce offspring with the

same trait when self-fertilized.

Example:
•Tall × Tall → all tall
•Dwarf × Dwarf → all dwarf
These plants are homozygous for the trait.
Chapter 3

© McGraw-Hill Education. 4-45

VI. Mendel’s Monohybrid Experiment
(One Trait)
A. Parental Generation (P)
Mendel crossed:
Tall plant (Tt)
Dwarf plant (tt)
 •(TT)

T T

(tt)
t
t
B. First Filial Generation (F₁)
Result:
•All offspring were Tall (Tt)
Observation:
•The dwarf trait disappeared in F₁
Conclusion:
•One trait is dominant (Tall)
•One trait is recessive (Dwarf)
C. Second Filial Generation (F₂)
Mendel allowed F₁ plants to self-fertilize:
Tt × Tt
Results in F₂:
•75% Tall T t
•25% Dwarf
T TT Tt
Phenotypic ratio:
•3 Tall : 1 Dwarf t Tt tt
Genotypic ratio:
•1 TT : 2 Tt : 1 tt
Chapter 3

Figure 4.2
Monohybrid Cross
Parental generation (P1 )
Tall X Short

F1
All tall

F2
1 4 Short : 3 4 Tall
© McGraw-Hill Education. 4-50
Chapter 3

Monohybrid Cross
• Experiments confirmed that hybrids hide
one expression of a trait, which reappears
when hybrids are self-crossed.

• Mendel speculated that each element was

packaged in a separate gamete.

• Law of segregation is Mendel’s idea that

element separate in the gametes.
© McGraw-Hill Education. 4-51
Chapter 3

© McGraw-Hill Education. 4-52

Chapter 3

© McGraw-Hill Education. 4-53

D. Mendel’s Conclusions from Monohybrid Cross
From this experiment, Mendel proposed:
[Link] are controlled by pairs of factors (now called
genes)
[Link] factor comes from each parent
[Link] allele can be dominant, the other recessive
[Link] separate during gamete formation
This led to the Law of Segregation.
Chapter 3

On the Meaning of
Dominance and
Recessive
• Recessive traits are due to “loss of
function.”
• Recessive disorders tend to be
severe, produce symptoms earlier
than dominant disorders
• Dominant traits arise from “gain of
function.”

© McGraw-Hill Education. 4-55

Chapter 3

© McGraw-Hill Education. 4-56

VII. Mendel’s Dihybrid Experiment
(Two Traits)
Mendel also studied two traits at the same
time.
Example traits:
•Seed shape: Round (R) vs Wrinkled (r)
•Seed color: Yellow (Y) vs Green (y)
Chapter 3

© McGraw-Hill Education. 4-58

 C. F₂ Generation
A. Parental Generation (P) (Self-cross of F₁)
Cross: RrYy × RrYy
•Round Yellow (RRYY) Mendel observed four
•Wrinkled Green (rryy) different phenotypes in the
ratio:
•9 Round Yellow
B. F₁ Generation •3 Round Green
All offspring: •3 Wrinkled Yellow
•1 Wrinkled Green
•Round Yellow (RrYy) Phenotypic ratio:
•9 : 3 : 3 : 1
 A. Parental Generation (P)
Parent Genotype Trait

Parent 1 RRYY Round Yellow

Parent 2 rryy Wrinkled Green

 Gametes from P Generation

How genes Gamete

Parent
separate formed
RRYY R+Y RY
rryy r+y ry
B. First Filial Generation (F₁)
Fertilization (P → F₁)
Offspring
Gamete 1 Gamete 2 Phenotype
Genotype

RY ry RrYy Round Yellow

All F₁ offspring are the same

Generation Genotype Phenotype
Round Yellow
F₁ RrYy
(100%)
C. Second Filial Generation (F₂)
(Self-cross of F₁)

Cross: RrYy × RrYy

Cross (F₂): RrYy × RrYy
Step 1: List the gametes

Each parent (RrYy) can produce 4 gametes by

independent assortment:

•RY
•Ry
•rY
•ry
Shape allele Color allele Gamete formed
R Y RY
R y Ry
r Y rY
r y ry
Step 2 : Punnett Square

RY Ry rY ry

RY

Ry

rY

ry
 RY Ry rY ry

RY RRYY RRYy RrYY RrYy

Ry RRYy RRyy RrYy Rryy

rY RrYY RrYy rrYY rrYy

ry RrYy Rryy rrYy rryy

Step 3: Phenotypes from the Punnett Square
Assuming:
•R = Round (dominant), r = Wrinkled (recessive)
•Y = Yellow (dominant), y = Green (recessive)
Phenotype Genetic Meaning Number
Round Yellow At least one R and one Y 9

Round Green At least one R, yy 3

Wrinkled Yellow rr, at least one Y 3

Wrinkled Green rr and yy 1

 Final Ratios (F₂)
Type Ratio
Phenotypic Ratio 9:3:3:1
Phenotype counts
(out of 16)
Round Yellow (R_Y_) = 9
Round Green (R_yy) = 3
Wrinkled Yellow (rrY_) = 3
Wrinkled Green (rryy) = 1

Phenotypic ratio: 9 : 3 : 3 : 1
Chapter 3

Plotting a
Dihybrid Cross

© McGraw-Hill Education. 4-73

Chapter 3

Probability
• The likelihood that an event will occur
• Product rule—Probability of simultaneous
independent events equals the product of their
individual probabilities
• Predicts the chance of parents with known
genotypes to produce offspring of a particular
genotype
• Example—Consider the probability of
obtaining a plant with wrinkled, green
peas (genotype rryy) from dihybrid (RrYy)
parents

© McGraw-Hill Education. 4-74

Chapter 3

Product Rule
Do the reasoning for
one gene at a time,
then multiply the
results.

© McGraw-Hill Education. 4-75

Chapter 3

© McGraw-Hill Education. 4-76

D. Conclusion from Dihybrid Cross
Mendel concluded that:
•Alleles of different genes are inherited
independently
This became the Law of Independent
Assortment.
VIII. Mendel’s Key Discoveries Summarized
From his experiments, Mendel proposed that:

[Link] are controlled by genes

[Link] come in pairs of alleles
[Link] allele may be dominant
[Link] separate during gamete formation
[Link] genes assort independently
iX. Limitations of Mendel’s Experiments
(Human Genetics Perspective)
Not all traits follow Mendel’s simple rules.
Examples not explained by Mendel alone:
•Incomplete dominance
•Codominance
•Polygenic traits
•Gene linkage
•Environmental effects
However, Mendel’s experiments remain the starting point for
understanding all inheritance patterns.
X. MUST TO KNOW!
Mendel’s experiments showed that
inheritance is:
•Predictable
•Ordered
•Controlled by genes
•Governed by basic laws
 Using Probability to Track Three Traits

When you track three traits at the same time,

probability helps you find the chance of getting a
specific combination of traits without drawing a
very large Punnett square.
Step-by-step

1. Treat each trait separately

First, find the probability of each trait one at a time.
For a typical heterozygous cross (Aa × Aa):
•Dominant phenotype (A_) = 3/4
•Recessive phenotype (aa) = 1/4
Do this for each of the three traits.
2. Use the Product Rule
If the traits are independently assorted:
Probability of Trait 1 AND Trait 2 AND Trait 3
= (probability of Trait 1) × (probability of Trait 2) × (probability of Trait 3)
Example
Suppose you want the probability of:
•Dominant Trait A (A_) = 3/4
•Recessive Trait B (bb) = 1/4
•Dominant Trait C (C_) = ¾

Calculation:
3/4 × 1/4 × 3/4 = 9/64

Final Answer: 9/64

Chapter 3

Pedigree Analysis (1 of 2)

For researchers, families are tools; the bigger the

family, the easier it is to discern modes of inheritance.

Pedigrees are symbolic representations of family

relationships and the transmission of inherited traits.

© McGraw-Hill Education. 4-85

Chapter 3

Pedigree Analysis (2 of 2)

© McGraw-Hill Education. 4-86

Chapter 3

Pedigree—Marriage of First Cousins

© McGraw-Hill Education. 4-87

Chapter 3

Importance of Pedigrees Today

Helps families identify the risk of transmitting
an inherited illness

Starting points for identifying and describing, or

annotating, a gene from the human genome
sequence

Meticulous family records are helping

researchers follow the inheritance of particular
genes

© McGraw-Hill Education. 4-88

Autosomal Dominant Trait
• Does not skip generations, can
affect both sexes
• Polydactyly = Extra fingers
and/or toes
Chapter 3

Autosomal Recessive Trait

Albinism = Deficiency in melanin production

Parents are inferred to be heterozygotes

© Paul Buarns/Getty Images RF

© McGraw-Hill Education. 4-90
An Inconclusive Pedigree
• This pedigree can
account for either an
autosomal dominant or
an autosomal recessive
trait

• Passed in an autosomal
dominant mode
Case:
A 9-year-old boy is diagnosed with hemophilia A (a bleeding
disorder). His father is normal (no hemophilia). His mother has no
symptoms. The boy has a sister who is normal. The mother’s
brother also has hemophilia, and the mother’s father is normal.
Question:

Based on the pedigree information, what is the most likely

pattern of inheritance and what is the most likely genotype
status of the mother?
A. Autosomal recessive; mother is affected (aa)
B. Autosomal dominant; mother is heterozygous (Aa)
C. X-linked recessive; mother is a carrier (XᴴXʰ)
D. X-linked dominant; mother is affected (XʰXʰ)
Correct Answer: C — X-linked recessive;
mother is a carrier (XᴴXʰ)
Clue Meaning
X-linked recessive diseases
Affected child is a boy
commonly appear in males
Father gives Y to son, so father
Father is normal cannot pass an affected X to the
boy
Mother has an affected Strong sign mother’s family
brother carries the affected X

Mother is not affected Most likely carrier, not diseased

 End of Presentation

© McGraw-Hill Education. All rights reserved. Authorized only for instructor use in the classroom. No reproduction or further distribution
4-96
permitted without the prior written consent of McGraw-Hill Education.
(FOR 3 POINTS)
In rabbits, black fur (B) is dominant over white (b)
and short ears (E) are dominant over long ears (e).
A rabbit with genotype BbEe is crossed with bbee.
What is the expected phenotypic ratio?
A. All black short
B. 1 black short : 1 black long : 1 white short : 1
white long
C. 3 black short : 1 white long
D. 2 black short : 2 white long
RATIONALE
This is a dihybrid cross involving two traits:
•Fur color
• Black = B (dominant)
• White = b (recessive)
•Ear length
• Short = E (dominant)
• Long = e (recessive)
Step 1: Identify the parental genotypes
•Parent 1: BbEe (heterozygous for both
traits)
•Parent 2: bbee (homozygous recessive
for both traits)
Step 2: Determine the possible gametes
BbEe parent can produce four types of gametes:
•BE
•Be
•bE
•Be

bbee parent can produce only one type of gamete:

•be
 Gamete Gamete Offspring
Phenotype
from BbEe from bbee Genotype
BE be BbEe Black, Short
Be be Bbee Black, Long
bE be bbEe White, Short
be be bbee White, Long
Step 4: Count the phenotypes
Each phenotype appears once, giving the ratio:
•1 Black Short
•1 Black Long
•1 White Short
•1 White Long
Conclusion
Because the heterozygous parent produces four
equally likely gametes, and the other parent is double
recessive, the cross results in a 1:1:1:1 phenotypic
ratio.

Therefore, the correct answer is B.

(FOR 3 POINTS)
Dihybrid probability (not asking ratio)
In mice, B = black (dominant), b = brown; L = long tail
(dominant), l = short tail.
Cross: BbLl × Bbll
What is the probability of an offspring that is brown with
short tail?
A. 1/2
B. 1/4
C. 1/8
D. 3/8
RATIONALE
This problem asks for probability, not a phenotypic
ratio, so we compute the probability for each trait
separately and then multiply them (Law of
Independent Assortment).
Step 1: Identify the desired phenotype
•Brown fur → genotype must be bb
(recessive)
•Short tail → genotype must be ll
(recessive)
Step 2: Analyze each gene separately
Fur color (B/b)
Cross: Bb × Bb
Possible outcomes:
•BB
•Bb
•Bb
•bb

Probability of bb (brown) = 1/4

Tail length (L/l)
Cross: Ll × ll
Possible outcomes:
•Ll
•ll
Probability of ll (short tail) = 1/2
Step 3: Multiply the probabilities
Because the traits assort independently:
1 1 1
Probability (bbll) = × =
4 2 8
Conclusion
The probability that an offspring is
brown with a short tail is 1/8.

Therefore, the correct answer is C. 1/8.

(FOR 3 POINTS)
Dihybrid with one homozygous dominant parent
In plants, Tall (T) is dominant over short (t) and
Red flowers (R) are dominant over white (r).
Cross: TTRr × ttRr
What percent of offspring will be tall with white flowers?
A. 0%
B. 25%
C. 50%
D. 75%
RATIONALE
This is a dihybrid cross where one parent is
homozygous dominant for height.

We again solve this by finding the probability for

each trait separately, then multiplying.
Step 1: Identify the desired phenotype
•Tall → genotype must have at least one T (T_)
•White flowers → genotype must be rr
(recessive)
Step 2: Analyze each trait separately
Plant height (T/t)
Cross: TT × tt
•All offspring receive T from the first parent
and t from the second parent
•All offspring are Tt (Tall)

Probability of Tall = 100% (1.0)

Flower color (R/r)
Cross: Rr × Rr
Possible outcomes:
•RR
•Rr
•Rr
•rr
Probability of rr (white flowers) = 1/4
Step 3: Multiply the probabilities
1 1
Probability (Tall and White) = 1 × =
4 4
1
= 25%
4
Conclusion
Even though all offspring are tall, only 25%
will have white flowers.

Therefore, the correct answer is B. 25%.

(FOR 1 POINT)
In a pedigree, all affected individuals are male,
and the trait is passed from father to son only.
What is the most likely inheritance pattern?
A. X-linked recessive
B. Autosomal dominant
C. Autosomal recessive
D. Y-linked
The key clues in the pedigree are:

•All affected individuals are male

•The trait is passed from father to son only

These findings strongly indicate a Y-linked
inheritance pattern.
Why Y-linked fits
•The Y chromosome is present only in males
•Fathers pass the Y chromosome directly to their
sons
•Therefore, only males are affected, and the trait is
seen in every generation of males
Why the other options are incorrect
•A. X-linked recessive – Affected fathers do not pass X-
linked traits to sons (sons get the Y chromosome from
the father)
•B. Autosomal dominant – Would affect both males
and females
•C. Autosomal recessive – Would affect both sexes and
often skip generations
THE END ! THANK YOU!