PRINCIPLES OF

GENETICS

Gemmarie R. Asauro MS.c

Instructor
What is Genetics?

 The study of , how organisms pass

on to their and how they
use it during their lifetime.
What is Genetics?

- are bits of biochemical

instructions.
- complete genetic instruction
 It is either . And the
coding system for genomic information
is very similar among organisms.
 There are three main divisions of
genetics, namely: ,
, and genetics.
Beginnings of Genetics
 Gregor Mendel- “Father of Genetics”
1866 - units of inheritance in pairs
- dominance and recessiveness
- equal segragation
- independent assortment
1900- experiment were rediscovered
Beginnings of Genetics
 Friedrich Miescher- DNA (nuclein)as
an acidic substance found in cell
nuclei.
 1902- human disease was first
attributed to genetic causes
(“inborn errors of metabolism”)

• William Bateson- coined the

word “genetics”.
 Beginnings of Genetics

 Hermann J. Muller – 1925-

1927 showed that x-rays • Beadle and Tatum 1941– one
induce mutations in a dose gene encodes one protein.
dependent fashion.
Beginnings of Genetics
 Avery, Macleod and Mccarty
1944- DNA is the molecule that
mediates heredity.

• Lederberg and Tatum 1946- genetic

material could be transferred laterally
between bacterial cells.
 Erwin Chargaff 1950- there are equal
amounts of adenine and thymine,
cytosine and guanine in DNA.
 1959- messenger RNA is the
intermediate between DNA and protein.

• Hamilton Smith1970- purified the

first restriction enzyme.
 Cohen and Boyer 1972-73-
construct first recombinant DNA.

 Fred Sanger 1977- developed

DNA sequencing technology.
 Kary Mullis 1986- developed PCR
 1990- genome projects begun.Yeast genome was
completed in 1996 and C. elegans genome was done
in 1998.

 Pat Brown 1990- invented DNA microarrays.

 1990- DNA fingerprinting, gene therapy and
genetically modified foods.
 Ian Wilmut- first cloning of a mammal (dolly the
sheep)
 Ian Wilmut- first cloning of a
mammal (dolly the sheep)
 2000- Drosophila genome was
 complete.
-Arabidopsis genome was
complete.
- human genome was
complete.
 2001- sequence of human
genome was released.
 2009- animal and human
breeding controversies.
-stem cells and GMO’s
Scope of Genetics
 Genetic engineering- using
genes understanding to
manipulate physical traits.

 Bioinformatics- using
understanding of DNA to
promote new forms of
behavioral functions in other
sciences.
 Scope of Genetics
 Nanotechnology- using DNA
itself to develop new physical
concepts.
-engineering of functional
systems at the molecular scale.
 History and anthropology-

DNA measurements as a
technique to understand the
past.
FUNDAMENTALS OF
GENETICS

Gemmarie R. Asauro MS.c

Instructor
Learning Outcomes

1. Define modern genetic terminologies.

2. Evaluate the monohybrid cross.
3. Explain Mendel’s First three postulates.
Heredity

 the transmission of genetic information from one

generation to the next information from one
generation to the next.
Genes
 Provide continuity between
generations that is Provide
continuity between
generations that is essential
for life.
 Control to a large extent the structure, function, & development
of an organism during each generation.
 Provide a set of instructions, genetic program, for the
development of an individual
Mendelian Genetics
 Gregor Johann Mendel (1822-1884
• an Austrian monk, born at the central
European village of Heinzendorf
• studied the inheritance of traits in pea
plants
• he cultivated and tested some 28, 000
pea plants
• He developed the law of inheritance
and his work was not recognized until
the turn of the 20th century
Pea (Pisum sativum)

q small spherical seed

or the seed-pod of
the flowering plant
species Lathyrus
oleraceus
Mendel’s Pea Plant Experiments
 used pea (Pisum
sativum) plants in his
experiment because
it can be grown in a
small area and
produces lots of
offspring

can occur in the

same flower.

can occur between

flowers
Modern Genetics Terminology

 Genetics - study of heredity

 Trait - any characteristic that can be passed from parent to

offspring
 Heredity - passing of traits from parent to offspring

 Gene - a unit of heredity; a section of a DNA sequence

encoding a single protein

 Genome- the entire set genes in an organism

 Locus - a fixed location on a strand of DNA where a gene or

one of its alleles is located
Modern Genetics Terminology

 Alleles - two forms of a gene (dominant & recessive)

 Dominant - stronger of two genes expressed in the hybrid;

represented by a capital letter

 Recessive - gene that shows up less often in a cross;
represented by a lowercase letter
 Homozygous - having identical genes (one from each parent)
for a particular characteristic
 Heterozygous - having two different genes for a particular
characteristic
Modern Genetics Terminology

 Phenotype - the physical feature resulting from a genotype (e.g.

red, white)
 Genotype - gene combination for a trait (e.g. RR, Rr, rr)

 Homozygous genotype – gene combination involving 2

dominant or 2 recessive
 Heterozygous genotype – gene combination of one dominant
& one recessive allele (e.g. Rr); also called hybrid
 Monohybrid cross – a genetic cross involving a single trait (e.g.
flower color)
Modern Genetics Terminology

 Dihybrid cross –a genetic cross involving two traits (e.g. flower

color & plant height)
 Parental P1 generation – the parental generation in a

breeding experiment
 F1 generation – the first-generation offspring in a breeding

experiment (1st filial generation); from breeding individuals

from P1 generation
Modern Genetics Terminology

 F2 generation – the second-generation offspring in a breeding

experiment (2nd filial generation); from breeding individuals
from F1 generation

 Punnett Square – used to help solve genetics problems; allow

geneticists to predict the possible genotypes and phenotypes of
offspring
How to make a Punnett Square?

 Punnett squares allow geneticists to predict the possible

genotypes and phenotypes of offspring.
For instance, both parents are for the yellow-pea
allele (Yy)
1. Determine the of the parent organisms.
Traits: Seed color
Allele: Y – Yellow seed y – Green seed
How to make a Punnett Square?

2. Write down the allele (mating).

Cross: Yellow seed (hybrid) × Yellow seed (Hybrid)
Yy × Yy
3. Make the grid
How to make a Punnett Square?
4. Fill in the grid:
How to make a Punnett Square?
5. Fill in the offspring

Traits: Seed color

Allele: Y – Yellow seed y – Green seed
Monohybrid Cross
 is a genetic involving a single pair of genes (one trait). It is made by
mating individuals from two-parent strains, which exhibit one of the two
different forms of the character under.
Monohybrid Cross
Monohybrid Cross

 The inheritance patterns of F1 and F2 are identical in

each irrespective of which P1 plant serves as the pollen
source (sperm), and which serves as the ovum source
(egg).
 The crosses may be made either way, that is, by tall

plants pollinating the dwarf plants or by tall plants

pollinating the dwarf plant. Those are known as
.
Monohybrid Cross
 Crossing two pea plants that differ in stem size (tall stems and
short/dwarf stem) represent Mendel’s monohybrid crosses.
 Crosses of the tall and dwarf stem of the plants will undergo
self-fertilization producing their perspective trait from
generation to generation.
 However, when Gregor Mendel crossed the tall stem with the
short/dwarf stem of the plants, the resulting first filial generation
consisted of tall plants only.
Monohybrid Cross
 If you let the F1 generation self-fertilize, the next monohybrid cross
would be:
Mendel’s Postulates / Principles of Inheritance
 Mendel derived the following three postulates or principles of
inheritance by using the consistent pattern of results in monohybrid
crossings.
Postulate I: UNIT FACTORS IN PAIRS/ PRINCIPLE OF PAIRED
FACTORS
 A genetic character is represented in an organism by a specific unit
factor that exists for each trait, and it lies on the two homologous
chromosomes at the same locus.
Mendel’s Postulates / Principles of Inheritance

Postulate II: LAW OF DOMINANCE/PRINCIPLE OF DOMINANCE

 When two unlike unit factors responsible for a single character are
present in a single individual, a one-unit factor is dominant to the other,
which is said to be recessive.
Mendel’s Postulates / Principles of Inheritance

Postulate III: LAW OF SEGREGATION

 During the formation of gametes, the paired unit factors separate or
segregate randomly so that each gamete receives one or the other
with equal likelihood.

 ex: trait: stem length

 TEST CROSS:
MONO-DI-
TRIHYBRID CROSSES

Gemmarie R. Asauro MS.c

Instructor
Test Cross: Mono-Di-Trihybrid Crosses

Learning Outcomes:
1. Explain the process of testcross using the Punnett square.
2. Identify the genotypes and phenotypes of the crossed individual.
3. Evaluate the phenotypic ratio as well as the genotypic ratio in a
given trait.
4. Discuss pedigree analysis in tracing a trait of a certain family in
each generation.
The Punnett Square
Reginald C. Punnett - devised the Punnett
square. After Gregor Mendel
proposed the laws of inheritance,
by experimenting on the garden
peas, Reginald Punnett
presented a new approach of
solving and finding the
phenotype, genotype, and their
ratios by using a square with
boxes.
The Punnett Square: Monohybrid Cross
 a is a characteristic that could be passed from the parent to their
offspring
 an is a letter representation denoting the two forms of a gene
 the term and is the prerequisite terms used in the
world of crosses.
 the general ratio of the is but could be
changed depending on the given traits of a certain organism.
Example:  Find:
 Zenas is a handsome teacher teaching 1. The genotype of their
agricultural extension subjects in a certain offspring;
institution. One day, when he was in a hurry for 2. The phenotype of their
a flag ceremony, he hit a lady named Marie offspring;
with his motorcycle. One month after, they fell 3. The genotypic ratio of
in love with each other and, after their their offspring;
wedding, they had their honeymoon where the
4. The phenotypic ratio
sea and the sky meet. Suppose that Zenas had
of their offspring;
a cleft chin (c) while Marie, his
wife, didn’t have a cleft chin (C). We know that 5. Genotypic percentage
a person who doesn’t have a cleft chin is of the offspring;
over the other. 6. Phenotypic percentage
of the offspring.
The F2 Generation
 The first parental generation (P1), is the generation of the father and
mother carrying the traits to be passed on to their offspring. The
offspring of the P1 generation is called the first filial generation (F1).
If the first filial generation is allowed to self-breed and self replicate
(intrabreed) or interbreed with other genotypes, the result is the F2
generation. The homozygous recessive allele is always expressed in
the F2 generation.
Question
 Pedro is the son of Zenas and Marie. When Pedro was married to Perla, a
lady with , they transferred to another country. Suppose that Pedro
carries a gene and Perla carries a
gene.
Find:
a) The genotype of their offspring;

b) The phenotype of their offspring;

c) The genotypic ratio of their offspring;

d) The phenotypic ratio of their offspring;

e) Genotypic percentage of the offspring;

f) Phenotypic percentage of the offspring.

The Dihybrid Cross
 Dihybrid cross is also known as the two-factor crosses.
 Dihybrid crosses use two traits of an organism.
 For example, you wanted to know the result of the second filial
generation of a tall and purple flower with a short and white flower.
 The tallness of that flower is one character and the color of the flower
is another character trait. The length and the flower color are the two
traits of the flower. The general ratio of the dihybrid crosses is
but could be changed depending on the given traits. Therefore, if two
traits are crossed, the process is known as the
Example:  Find:
 Zenas is a handsome teacher teaching science 1. The genotype of their
subjects in a certain institution. One day, when he offspring;
was in a hurry for a flag ceremony, he hit a lady 2. The phenotype of their
with his motorcycle. One month after, they fell in love offspring;
with each other. And after their wedding, they had 3. The genotypic ratio of
their honeymoon where the sea and the sky meet their offspring;
somewhere in California. Suppose that Zenas had a
4. The phenotypic ratio
and a
of their offspring;
) while Marie, his
wife, had a 5. Genotypic percentage
and a We of the offspring;
know that a person who doesn’t have a cleft chin and 6. Phenotypic percentage
a presence of dimples is dominant over the other of the offspring.
Note:
- Always remember that the offspring may undergo the
.
- The plant and animal species differ in their mode of crosses. For
example, plants will undergo self-pollination because they are plants.
- On the other hand, a human cannot undergo but it is
possible to undergo .
- The process between is different
because, in the self-replication, the allele of an organism is being
crossed to its own allele. While in the interbreeding process, we will
need the alleles from two different organisms for crossing to find the
genotypes and phenotypes of the offspring.
The Trihybrid Cross
q Trihybrid crosses require three character traits of an organism.
Example:  Find:
 Zenas is a handsome teacher teaching science
1. Find the gametes
subjects in a certain institution. One day, when he
was in a hurry for a flag ceremony, he hit a lady 2. The genotype of their
with his motorcycle. One month after, they fell in love offspring;
with each other. And after their wedding, they had 3. The phenotype of their
their honeymoon where the sea and the sky meet offspring;
somewhere in California. Suppose that Zenas had a 4. The genotypic ratio of
their offspring;
, and 5. The phenotypic ratio
while Marie, his wife, of their offspring;
had a ,
and 6. Genotypic percentage
. We know that a of the offspring;
person who doesn’t have a cleft chin, a presence of 7. Phenotypic percentage
dimples, and long eyelashes is dominant over the of the offspring.
other.
The Trihybrid Cross - Result
q CcDdEe will undergo a self-replication (intrabreed) process
q Find the F2 generation
The Trihybrid Cross - Result
q Find the genotypic ratio: 27:9:9:9:3:3:3:1
CDE = 27 q Find the Phenotyphic ratio:

CDe = 9 27 offspring have dominant no cleft chin, with dimples, and with long eyelashes.
CdE = 9 9 offspring have dominant no cleft chin, with dimples, with short eyelashes.
9 offspring have dominant no cleft chin, with no dimples, and with long
Cde = 9
eyelashes.
cDE = 3 3 offspring have dominant no cleft chin, with no dimples, and with short
cDe = 3 eyelashes.
cdE = 3 9 offspring have a recessive cleft chin, with dimples, and with long eyelashes.
cde = 1 3 offspring have a recessive cleft chin, with dimples, and with short eyelashes.
3 offspring have a recessive cleft chin, with dimples, and with long eyelashes.
1 child has a recessive cleft chin, with no dimples, and with short eyelashes
The Trihybrid Cross - Result
q Find the genotypic percentage of the offspring.
There are 64 offspring in the given Punnett square.
q 42 % CDE

q 14 % CDe
• In the general ratio of this cross is
q 14 % CdE
27:9:9:9:3:3:3:1. But always remember
q 5 % Cde that this could be changed depending
q 14 % cDE on the given traits of an organism. This
q 5 % cDe is also known as the
q 5 % cdE

q 1 % cde
QUESTIONS

Gemmarie R. Asauro MS.c

Instructor