Introduction to

Genetics
Objectives
At the end of the lesson the students will able to:
a. describe the Mendelian Law of Inheritance;
b. differentiate monohybrid cross from dihybrid cross;
c. perform monohybrid and dihybrid cross using the
Punnet square;
d. identify the contributions of Gregor Mendel in the
study of genetics;
e. describe the composition of the genetic material and
the evidence that established DNA as the hereditary
material;
f. describe DNA replication and protein synthesis;
g. define genetic engineering.
• The study of genetics began
with observations made by
Gregor Mendel.

• After noticing that the

flowers his pea plants were Between 1856 and 1863
either violet or white, he cultivated and tested
Mendel began to study the at least 28,000 pea
plants.
segregation of heritable
traits.
Remember that Mendel worked almost 150 years ago
when nobody knew about genes or even the structures
(chromosomes) that carry genes.
 Genetics Notes
Who is Gregor Mendel? “Father of Genetics”
Gregor Johann Mendel
• Austrian monk Gregor Johann Mendel first studied the
science of modern genetics.
• He worked and lived in a monastery with a large garden
planted with different kinds of peas.
• He bred different varieties of garden peas and cross
pollinated flowers that had different forms of traits.
Contrasting expressions or alternative forms of trait are
called alleles.
• Mendel was fascinated with the different characteristics of
garden peas (Pisum sativum) and he noted their important
character traits. He observed the contrasting alleles of each
trait. He was the first scientist to provide an excellent
explanation of the mechanisms of heredity.
 Traits
• Genetics – study of how traits are passed from parent
to offspring
Genetics
• The science of studying hereditary information is known
as genetics. It deals with the mechanisms and
processes involved in heredity.
• Heredity refers to the passing of traits from the parents
to their offspring.
• Some of the characteristics that can be inherited from the
parents are eye color, height, texture of the hair, shape of
the earlobes, skin complexion, etc. These are called
hereditary characteristics since they are passed on
from one generation to another.
• All living organisms, both unicellular and multicellular,
contain and store, and produce copies of the genetic
information that will be passed and utilized by one
generation to another.
 Mendel's First Investigation
• In his first trial, he wanted to cross-pollinate a pure
breed of pea plant. In order for him to give a pure
sample of pea plant, he let the garden pea to perform
self pollination covering several generations. For
example, yellow seed garden pea was self-pollinated
allowing it to produce a pure breed of yellow pea plant.
His main goal on this experiment was to allow two kinds
of pure breed of garden pea to cross-breed and observe
the kind of offspring it would produce.
Mendel’s Pea Traits
 Monohybrid Cross

Mendel represented the crossing of

traits using X which means mating or X
crossing.
A monohybrid cross shows
crossbreeding involving a single trait
or character factor. Since he had a
pure breed of garden pea plant, he
started the mating of the pure breed
sample. Some of the pure breed
samples that he used were round
seed over wrinkled seed and green
pod over yellow pod.
 Monohybrid Cross

In plants, pure breeding X

varieties produce only one form
of a particular trait known as the
parental generation. Parental
generation (represented P)
refers to the first two individuals
that are crossed in a breeding
experiment. He carefully
conducted his experiment to
avoid accidental pollination from
other peas.
 Monohybrid Cross
• He crossbred a pure breed of round seeds with
the pure breed of wrinkled seeds. The
X
observable expressions of the trait (round or
wrinkled seed) are called phenotype, while the
factors or the genes located inside the nucleus
of the cells of the plants that are responsible
for the observed traits are called genotype.
• He conducted several experiments that
provided him similar results. The P1 serves as
the pure breeds and F1 stands for first filial
generation or first offspring. The offspring
produced are called hybrid resulting from a
cross of two pure breeding plants.
• Traits are determined by the genes on the
chromosomes. A gene is a segment of DNA that
determines a trait.
• Chromosomes come in homologous pairs, thus genes
come in pairs.
Homologous pairs – matching genes – one from female
parent and one from male parent
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
• One pair of Homologous Chromosomes:

Gene for eye color

(blue eyes)

Homologous pair
of chromosomes

Gene for eye color

(brown eyes)

Alleles – different genes (possibilities) for the same trait –

ex: blue eyes or brown eyes
Dominant and Recessive Genes
• Gene that prevents the other gene from “showing” –
dominant
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t

Recessive
Dominant
color
color
Example: Straight thumb is dominant to hitchhiker thumb
T = straight thumb t = hitchhikers thumb

(Always use the same letter for the same alleles—

No S = straight, h = hitchhiker’s)

Straight thumb = TT
Straight thumb = Tt
Hitchhikers thumb = tt * Must have 2 recessive alleles
for a recessive trait to “show”
• Both genes of a pair are the same –
homozygous or purebred
TT – homozygous dominant
tt – homozygous recessive

• One dominant and one recessive gene –

heterozygous or hybrid
Tt – heterozygous

BB – Black
Bb – Black w/ bb – White
white gene
Genotype and Phenotype
• Combination of genes an organism has (actual gene
makeup) – genotype
Ex: TT, Tt, tt
• Physical appearance resulting from gene make-up –
phenotype
Ex: hitchhiker’s thumb or straight thumb
Punnett Square and Probability
• Used to predict the possible gene makeup of offspring –
Punnett Square
• Example: Black fur (B) is dominant to white fur (b) in mice
1. Cross a heterozygous male with a homozygous recessive female.

Black fur (B) White fur (b)

Heterozygous Homozygous
male recessive female

White fur (b) White fur (b)

 Male = Bb X Female = bb
Female gametes – N
(One gene in egg)
b b
Possible offspring – 2N
Male gametes - N B Bb Bb
(One gene in
sperm) b bb bb

Write the ratios in the following orders:

Genotypic ratio = 2 Bb : 2 bb Genotypic ratio
50% Bb : 50% bb homozygous : heterozygous : homozygous
Phenotypic ratio = 2 black : 2 white dominant recessive
50% black : 50% white Phenotypic ratio
dominant : recessive
Cross 2 hybrid mice and give the genotypic ratio and
phenotypic ratio.
B b
Bb X Bb
B BB Bb

b Bb bb

Genotypic ratio = 1 BB : 2 Bb : 1 bb
25% BB : 50% Bb : 25% bb

Phenotypic ratio = 3 black : 1 white

75% black : 25% white
Sample Problem:
In pea plants, having a green pod (G) is dominant over the
B
yellow pod (g). A heterozygous b pod in a pea plant is
green
allowed to pollinate by itself. Give the genotypes and
phenotypes of theB resulting F1
Step 1: Choose a letter to represent the genes in the cross. NOTE: If possible,
always use letters that have a distinct capital and small letter to avoid mistakes and
misconception during checking. Avoid using letters such as C, J, O, S, U, V, W, X,
Y, and Z.
b
Step 2: Write the genotypes (in symbols) of the parents involved in the cross (P,).
Step 3: Determine the possible gametes that the parents can reproduce.
Step 4: Place these gametes at the top and side of a Punnett square.
Step 5: Fill in the empty boxes of the Punnett square by writing the alleles from the
gametes that combine in the appropriate boxes.
Step 6: Using the results written inside the boxes, answer the problem given.
a. Genotypes =
b. Phenotypes =
Example: A man and woman, both with brown eyes (B)
marry and have a blue eyed (b) child. What are the
genotypes of the man, woman and child?

Bb X Bb
Man = Bb
B b
Woman = Bb
B BB Bb

b Bb bb
• What is the probability of a couple having a boy? Or a girl?

Chance of having female baby? 50%

male baby? 50%

X X
X XX XX

Y XY XY

Who determines the sex of the child? father

 Mendelian Principles

The Principle of Dominance and Recessiveness

• This states that one factor in a pair may mask the expression
of the other. Mendel called the allele of the trait that is
expressed as the dominant allele, while the allele that is
masked but reappears in the F₂ generation as the recessive
allele.
 Mendelian Principles
The Law of Segregation
• This states that a gene pair carries two separate
characteristics. Mendel postulated that the egg cell and the
sperm cell carry the hereditary factors that the offspring
receives one factor from each parent.
 Mendelian Principles
The Law of Independent Assortment
• This states that during the gamete formation, the gene pair
assorts independently. Mendel concluded that the inheritance
of one trait is not affected by the inheritance of another trait.
 Non - Mendelian Principles
Codominance
This is a condition wherein both alleles are expressed resulting
in the formation of the third phenotype or characteristics. It is
different from incomplete dominance because the third
phenotype is not a blending of the two parental traits; rather,
both parental traits are displayed. As shown in Figure 4.8, the
third characteristics of fur color manifested in cow is called as
roan.
 Non - Mendelian Principles
Multiple Alleles
Do you know your blood type? What about your parents' blood
types? Do you know that your blood type could be inherited?
Parental issues can be resolved through blood typing, which
involves the examination of the ABO blood group of humans.
In multiple alleles, there are three or more alleles that may
exist in the gene of a given population.
There are three common alleles of this gene in human
populations: I^, 18, and 1° or i. The IA and 1B are dominant
over 1° or i. Individuals with genotype l^l^ or genotype I^10 or
lA i have blood type A. Those with genotype 1B1B or genotype
1810 or 18 i have blood type B. The IA and 15 alleles are
codominant; thus, individuals with genotype IAIB have blood
type AB.
 Non - Mendelian Principles
Since history records show incomplete studies of the work of
Mendel, other scientists conducted their own studies. Sutton
and Boveri proposed the Chromosome Theory of Inheritance
defining that chromosomes are structures that are found inside
the nucleus of a cell that carry the genetic information.

Incomplete Dominance

This states that the pattern of inheritance, where an

intermediate phenotype other than the two parental
phenotypes, is observed. In some cases, the dominant allele
failed to cover or hide the recessive allele. In Figure 4.7, the
offspring does not resemble either of the parents and is called
incomplete dominance. In this case, no allele is completely
dominant over the other.
Incomplete dominance and Codominance
• When one allele is NOT completely dominant over
another (they blend) – incomplete dominance
Example: In carnations the color red (R) is incompletely
dominant over white (W). The hybrid color is
pink. Give the genotypic and phenotypic ratio from a
cross between 2 pink flowers.
R W
RW X RW
R RR RW

W RW WW

Genotypic = 1 RR : 2 RW : 1 WW
Phenotypic = 1 red : 2 pink : 1 white
• When both alleles are expressed – Codominance
Example: In certain chickens black feathers are
codominant with white feathers.
Heterozygous chickens have black and white speckled
feathers.
Sex – linked Traits
• Genes for these traits are
located only on the X
chromosome (NOT on the Y
chromosome)
• X linked alleles always show
up in males whether
dominant or recessive
because males have only
one X chromosome
• Examples of recessive sex-linked disorders:
1. colorblindness – inability to distinguish between
certain colors

You should see 58

(upper left), 18
(upper right), E
(lower left) and 17
(lower right).

Color blindness is the inability to distinguish the differences between certain colors. The most
common type is red-green color blindness, where red and green are seen as the same color.
2. hemophilia – blood won’t clot
Example: What would be the possible blood types of
children born to a female with type AB blood and
a male with type O blood?

AB X OO
A B
O AO BO

O AO BO

Children would be type A or B only

Mutations
• Mutation – sudden genetic change (change in base pair
sequence of DNA)
• Can be :
Harmful mutations – organism less able to survive:
genetic disorders, cancer, death
Beneficial mutations – allows organism to better
survive: provides genetic variation
Neutral mutations – neither
harmful nor helpful to organism
• Mutations can occur in 2 ways:
chromosomal mutation or
gene/point mutation
• Examples:
Down’s syndrome – (Trisomy 21) 47 chromosomes,
extra chromosome at pair #21