UNIT 1

PATTERN OF INHERITANCE
 LEARNING COMPETENCIES :

➢Predict genotypes and phenotypes

of parents and offspring using the
laws of inheritance.
➢Distinguish Mendelian from non-
Mendelian modes of inheritance
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JOHANN GREGOR MENDEL
July 20, 1822- January 6, 1884

➢The Father of Genetics

➢An Austrian monk, botanist,

teacher and a mathematician
who formulated the
Fundamental Laws of
Inheritance through his work
on Garden Pea plant.
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 REASONS WHY MENDEL
CHOSE THE PEA PLANT:
1. The flowers of this pea plant is bisexual .

2. They are self-pollinating thus, capable of

self and cross pollination.
3. Have different physical characteristics easy to
recognize and study.
4. Have shorter life span and easy to maintain.
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TRY THIS! 1. Find the Ratio of the possible
offspring of the Pea plant if one is
T t tall (Tt) and the other is short (tt).
2. How many are tall and short?
t Tt tt
Answer:
t Tt tt
1. 2 : 2 2. Tall – 2 Short- 2
PHENOTYPE: Tall – 2 Short - 2
GENOTYPE: Tt – 2 tt - 2
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 PHENOTYPE VS. GENOTYPE
PHENOTYPE – Refer to the physical appearance of an organism.
- An individual’s detectable/observable characteristics/traits.
Example: height, hair color, eye color, skin color, etc.
GENOTYPE- the genetic make-up of an organism or the
variant forms of a gene that are carried by an organism.
➢It can be represented by symbols. Example: Yy, yy, YY.
➢Types:; Homozygous dominant (YY); Homozygous
recessive (yy)l Heterozygous (Yy)
 LAW OF DOMINANCE- It states that “When
parents with pure contrasting traits are crossed
together, only one form of trait appears in the
next generation. The hybrid offspring will exhibit
only the Dominant trait in the phenotype.
R-Round r-wrinkled 1. RR 2. Rr 3. rr
PHENOTYPE: 1. Round 2. Round 3. wrinkled
➢In a heterozygote, one trait will conceal the presence
of another trait for the same characteristics.
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LAW OF SEGREGATION – It states that paired unit
factors (genes) must segregate equally into gametes such
that offspring have an equal likelihood of inheriting either
factor.
LAW OF INDEPENDENT ASSORTMENT – It states
that genes do not influence each other with regard to
the sorting of alleles into gametes and every possible
combination of alleles for every gene is equally likely to
occur.
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 The example here shows a cross of
peas having yellow and smooth seeds
with peas having green and wrinkled
seeds. A stands for the gene for yellow
and a for the gene for green; B stands
for the gene for a smooth surface
and b for the gene for a wrinkled
surface.
PHENOTYPIC RATIO- 9:3:3:1
(9) Yellow/smooth; (3) yellow/wrinkled; (3)
Green/smooth: (1) green/wrinkled
GENOTYPIC RATIO- 4:2:2:2:2:1:1:1:1
4 (AaBb); 2 (AABb): 2 (AaBB): 2 (Aabb): 2 (aaBb):
1 (AABB): 1(Aabb); 1 (aaBB): 1 (aabb)
 LAW OF INCOMPLETE
DOMINANCE:
➢ results from a cross in which
each parental contribution is
genetically unique and gives rise
to progeny whose phenotype is
intermediate.
➢ one of the factors of a gene is
dominant, the phenotype of a
heterozygous dominant
individual is a blend of dominant
and recessive traits.
Example: Snapdragon; Mirabilis Jalapa
 LAW OF CODOMINANCE
➢ Two alleles (different versions of the
same gene) are expressed to an equal degree
within an organism. As a result, traits
associated with each allele are displayed
simultaneously.
➢ Eample: People with the AB blood type have
one A allele and one B allele. Because both
alleles are expressed at the same time, their
blood type is AB.
 SEX LINKAGE
➢Sex linked inheritance is traits
carried in either the X or the Y
chromosome.
➢Example: Red Green Colour
blindness; Hemophilia ; Hairy Ears
(Y chromosome)
 GENETIC LINKAGE
➢Genes that are sufficiently close
together on a chromosome will tend to
"stick together," and the versions (alleles)
of those genes that are together on a
chromosome will tend to be inherited as
a pair more often than not.
General recombination
(also called homologous
recombination) allows
large sections of the DNA
double helix to move from
one chromosome to
another, and it is
responsible for the
crossing-over of
chromosomes that occurs
during meiosis in fungi,
animals, and plants.
 EPISTASIS
➢An interaction between genes such that one
gene masks or interferes with the expression of
another.
➢An example of epistasis is pigmentation in mice. The wild-
type coat color, agouti (AA), is dominant to solid-colored
fur (aa). However, a separate gene (C) is necessary for
pigment production.
 GENETIC ENGINEERING
➢A process that uses laboratory-based technologies to
alter the DNA makeup of an organism.
➢It may involve changing a single base pair (A-T or C-G),
deleting a region of DNA or adding a new segment of DNA.
➢It aims to modify the genes to enhance the capabilities
of the organism beyond what is normal.
➢GMO (Genetically Modified Organism ) is the result Genetic
engineering
The central dogma of molecular
biology is an explanation of the flow of
genetic information within a biological
system. It is often stated as "DNA makes
RNA, and RNA makes protein"
 NUCLEIC ACIDS
➢ Nucleic acids are large biomolecules that play
essential roles in all cells and viruses.
Deoxyribonucleic acids (DNA) & Ribonucleic
acids (RNA) are the 2 main classes of Nucleic
acid.
➢ Nucleic acids have a very diverse set of
functions, such as cell creation, the storage
and processing of genetic information, protein
building, and the generation of energy cells.
➢A Nucleotide is made up of 3
components: a Nitrogenous bases
(Pyrimidine & Purine), a Pentose (5
Carbon) sugar, a Phosphate group. Each
nitrogenous base in a nucleotide is attached
to a sugar molecule, which is attached to
one or more phosphate group.
 ➢A Nucleotide contains one of four possible
nitrogenous bases: Adenine (A), Guanine (G),
Cytosine (C), Thymine (T) & Uracil (U).
➢PURINE BASE- Adenine and Guanine with the
primary structure of having a 2 Carbon-nitrogen rings

➢PYRIMIDINE BASE- Cytosine, Thymine and Uracil

have a single carbon-nitrogen ring in their primary
structure.
 PROTEINS
➢ Proteins are organic molecules that are
present in living organisms. They serve a
wide range of functions including
organization, transportation, and defense.
➢ Made up of building blocks called amino
acids. There are about 20 different amino
acids that link together in different
combinations.
➢An amino acids contains a central Carbon atom
bonded to an Amino group (NH2), a Carboxyl group
(COOH) & to a Hydrogen atom. Every amino acid
also has another atoms or group of atoms bonded to
the central atom known as the R group.
The sequence & the number of amino acids
ultimately determine the protein’s shape, size
& function. Each amino acid is attached to
another amino acid by a covalent bond known
as “peptide bond”. As more amino acids join
to the growing chain, the resulting chain is
known as a “polypeptide .” N terminal has free
amino group at the end of the polypeptide and
the other end has a free carboxyl group known
as C terminal.
Bovine serum insulin is a
protein hormone made of 2
peptide chains.
 DNA REPLICATION
➢The process by which the genome's DNA is
copied in cells. Before a cell divides, it must
first copy (or replicate) its entire genome so
that each resulting daughter cell ends up
with its own complete genome.
Enzymes that participate in the eukaryotic DNA replication process
include:
•DNA helicase - unwinds and separates double stranded DNA as it
moves along the DNA. It forms the replication fork by
breaking hydrogen bonds between nucleotide pairs in DNA.
•DNA primase - a type of RNA polymerase that generates RNA
primers. Primers are short RNA molecules that act as templates for
the starting point of DNA replication.
•DNA polymerases - synthesize new DNA molecules by adding
nucleotides to leading & lagging DNA strands.
•Exonucleases - group of enzymes that remove nucleotide bases
from the end of a DNA chain.
•DNA ligase - joins DNA fragments together by forming
phosphodiester bonds between nucleotides.
Step 1: Replication Fork Formation
Before DNA can be replicated, the double stranded molecule must
be “unzipped” into two single strands. In order to unwind DNA,
these interactions between base pairs must be broken. This is
performed by an enzyme known as DNA helicase. DNA helicase
disrupts the hydrogen bonding between base pairs to separate the
strands into a Y shape known as the replication fork. This area
will be the template for replication to begin.
Step 2: Primer Binding
The leading strand is the simplest to replicate. Once the DNA
strands have been separated, a short piece of RNA called
a primer binds to the 3' end of the strand. The primer always
binds as the starting point for replication. Primers are generated
by the enzyme DNA primase.
Step 3: Elongation
Enzymes known as DNA polymerases are responsible
creating the new strand by a process called elongation. DNA
polymerase binds to the strand at the site of the primer and
begins adding new base pairs complementary to the strand
during replication. Because replication proceeds in the 5' to 3'
direction on the leading strand, the newly formed strand is
continuous.
The lagging strand begins replication by binding with
multiple primers. Each primer is only several bases apart. DNA
polymerase then adds pieces of DNA, called Okazaki
fragments, to the strand between primers. This process of
replication is discontinuous as the newly created fragments are
disjointed.
Step 4: Termination
Once both the continuous and discontinuous strands are formed, an
enzyme called exonuclease removes all RNA primers from the original
strands. These primers are then replaced with appropriate bases. Another
exonuclease “proofreads” the newly formed DNA to check, remove and
replace any errors. Another enzyme called DNA ligase joins Okazaki
fragments together forming a single unified strand. The ends of the linear
DNA present a problem as DNA polymerase can only add nucleotides in the
5′ to 3′ direction. The ends of the parent strands consist of repeated DNA
sequences called telomeres. Telomeres act as protective caps at the end of
chromosomes to prevent nearby chromosomes from fusing. A special type
of DNA polymerase enzyme called telomerase catalyzes the synthesis of
telomere sequences at the ends of the DNA. In the end, replication produces
two DNA molecules, each with one strand from the parent molecule and
one new strand.
 TRANSCRIPTION
➢The process by which the information in a strand of DNA
is copied into a new molecule of messenger RNA (mRNA).
DNA safely and stably stores genetic material in the nuclei
of cells as a reference, or template.
➢ Transcription is performed by enzymes called RNA
polymerases, which link nucleotides to form an RNA
strand (using a DNA strand as a template).
➢ Transcription has three stages: Initiation,
Elongation, and Termination.
 STAGES IN TRANSCRIPTION
1. Initiation. RNA polymerase binds to a
sequence of DNA called the promoter, found
near the beginning of a gene. Each gene (or
group of co-transcribed genes, in bacteria) has
its own promoter. Once bound, RNA
polymerase separates the DNA strands,
providing the single-stranded template
needed for transcription.
2. Elongation. One strand of DNA, the template
strand, acts as a template for RNA polymerase.
As it "reads" this template one base at a time,
the polymerase builds an RNA molecule out of
complementary nucleotides, making a chain
that grows from 5' to 3'. The RNA transcript
carries the same information as the non-
template (coding) strand of DNA, but it contains
the base uracil (U) instead of thymine (T).
3. Termination. Sequences
called terminators signal that the RNA
transcript is complete. Once they are
transcribed, they cause the transcript to be
released from the RNA polymerase.
➢ RNA POLYMERASE- The main enzyme involved in
transcription is RNA polymerase, which uses a single-
stranded DNA template to synthesize a
complementary strand of RNA. Specifically, RNA
polymerase builds an RNA strand in the 5' to 3'
direction, adding each new nucleotide to the 3' end of
the strand.
➢mRNA- called messenger RNA (mRNA), carries the
gene's protein information encoded in DNA.
➢tRNA- serves as a link (or adaptor) between the messenger
RNA (mRNA) molecule and the growing chain of amino
acids that make up a protein.
➢rRNA- It ensures the proper alignment of the mRNA and
the ribosomes during protein synthesis and catalyzes the
formation of the peptide bonds between two aligned
amino acids during protein synthesis.
➢CODON- a three-nucleotide or triplet sequence found
on mRNA that codes for a certain amino acid during
translation.
➢Anticodon- three-nucleotide sequence found on tRNA that
binds to the corresponding mRNA sequence.
 TRANSLATION
Translation is the process of converting mRNA into
an amino acid chain. DNA stores the information
for proteins in its nucleotide sequence.
During transcription, the genetic code (DNA) was
turned into mRNA and modified. Now, the modified
RNA is ready to be turned into a protein. Translation
occurs on ribosomes which are either floating in
the cytoplasm or chilling on the surface of the rough
endoplasmic reticulum.
thank you