Bahir Dar University

STEM Center

Grade-11 Biology (Unit 4-6)

By:
Ziyin Mihretie (PhD)

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Contents
Unit-4: Genetics
4.1. The genetic materials 4.7 Non-Mendelian inheritance
4.2. The structure and function of DNA and RNA 4.7.1 Dominance Relationships and Multiple alleles
4.2.1. The Structure and function of DNA 4.7.2 Rh factor inheritance in humans
4.2.3 DNA replication 4.7.3 Sex-linked inheritance in humans
4.2.2 The structure and function of RNA 4.7.4 Environmental effects on phenotype
4.3 The process of cell division 4.8 Human pedigree analysis and its importance
4.3.1 Cell Division 4.9 Genetic disorders
4.10 Genetic testing and counseling
4.4 Protein synthesis
4.11 Gene therapy
4.5 Mendelian inheritance
4.12 Breeding
4.5.1 Mendelian crosses
4.12.1 Indigenous knowledge of Ethiopian farmers
4.5.2 Monohybrid cross
4.13 Bioinformatics introduction
4.5.3 Dihybrid Cross
Unit four summary
4.5.4 Test Crosses
Unit four review questions
4.6 Sex determination 2
… Contents
Unit-5: The human body systems
5.1. Human Musculoskeletal Systems 5.2.6 Major sexually transmitted infections (STIs) in Ethiopia
5.1.1. Types of muscles 5.2.8. Epidemiology of STIs in Ethiopia
5.1.2. Mechanism of actions of skeletal muscles 5.3 Harmful traditional practices
5.1.3. The human axial and appendicular skeletons 5.3.1 Harmful traditional practices
5.1.4. Joints 5.4 Family planning
5.2 The reproductive system 5.4.1 Risks related to the lack of family planning
5.2.1. Human reproductive system 5.4.2 Family planning actions
5.2.2 Gametogenesis 5.4.3 Family planning services
5.2.2 Positive and negative feedbacks 5.5 Effects of drug uses
to control the menstrual cycle 5.5.1 The effects of alcohol uses
5.2.3 Fertilization and pregnancy 5.5.2 Effects of chewing Khat
5.2.4 Mechanism of action of 5.5.3 Effects of drug uses
contraceptives
Unit five summary
5.2.5 Causes of infertility in humans
Unit five review questions 3
… Contents
Unit-6: Population and Natural Resources
6.1. Population 6.5 Impact of human activities on environment
6.1.1 Population size, density and dispersal 6.5.2 Climate change
6.1.2 Exponential and logistic growth in 6.5.3 Global warming
populations
6.5.4 Ozone layer depletion
6.1.3 Demographic structure 6.5.5 Acid rain
6.1.4 Population regulation 6.5.6 Loss of Biodiversity
6.2 Natural resources 6.5.7 Toxic bioaccumulation
6.2.1 Renewable 6.5.8 Resource depletion
6.2.2 Non-renewable 6.6 Indigenous conservation practices in Ethiopia
Unit six summary
6.3 Conservation of natural resources in Ethiopia
Unit six review questions
6.4 Impact of traffic accident on animals

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 Unit 4: Genetics
What is genetics?
 Look at the people in your surroundings.
 Are all your classmates the same?
 Are all members of your family the same?
 Why all individuals are not the same?
 What about identical twins, are they the same?
 What do you think is the reason behind it?

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 …Unit 4: Genetics
 People are unique because of a combination of factors that
shape their individual identities, including genes, and
environment.
 Genetics is the branch of biology that studies genes,
heredity, and variation in living organisms.
 It focuses on how traits or characteristics are passed down
from parents to offspring through genes, which are
segments of DNA (deoxyribonucleic acid) located in the
cells.
 Genes determine many of the physical and functional traits
of an organism, such as eye color, height, or susceptibility to
certain diseases.
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 …Unit 4: Genetics
4.1. The genetic materials
What is the Genetic material?
• The genetic material of an organism refers to the material
that carries genetic information and passes it from one
generation to the next generation to perpetuate life.
• The genetic (hereditary) material in almost all organisms is
DNA.
• RNA (ribonucleic acid) is also a genetic material in some
viruses like HIV, COVID-19.

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 …Unit 4: Genetics
 How do DNA & RNA work in transmitting genetic
information from parents to offspring?
 When an organism reproduces, the DNA is copied (replicated) and
passed down to offspring.
 In sexual reproduction, each parent contributes half of their DNA
to their offspring through gametes (sperm and egg cells).
 How do genes determine the physical and functional
traits of an organism?
 Through the process of transcription (RNA synthesis) &
translation (protein synthesis), the genetic information stored in
DNA (genes) is expressed as proteins, which are responsible for
carrying out most cellular functions and determining an
organism's traits. 8
 …Unit 4: Genetics
 If all organisms are made of DNA, why do they differ?
 While all organisms are made of DNA, the differences
between them arise from variations in the genetic code,
how genes are expressed, and how the environment
interacts with those genes.
4.2. The structure and function of DNA and RNA
 Both DNA and RNA have their own structures and roles in
determining the characteristics of organisms.
4.2.1.The Structure and function of DNA
The structure of DNA
What is DNA made of?
 Nucleotides are the building blocks of a DNA molecule.9
 …Unit 4: Genetics

 A nucleotide is
composed of a
‘
pentose sugar, a ‘ ‘
phosphate group ‘ ‘
and a nitrogenous
base (Figure 4.1).

Figure 4.1 The structures of a single nucleotide

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 …Unit 4: Genetics
 There are four types of
nitrogenous bases
(Figure 4.2).
 These are: Adenine
(A), Thymine (T),
Guanine (G) and
Cytosine (C).
 The nitrogen bases
belong to the two large
chemical families
called purine and
pyramidine.

Figure 4.2 Structures of purines and pyrimidines 11

 …Unit 4: Genetics
 DNA consists of two long chains of nucleotides called
polynucleotides.
 The structure of DNA is a ladder-like double helix twisted into
a spiral shape, in which the sugar and phosphate groups form
the two vertical ladder and the nitrogenous bases form the
ladder’s rungs (Figure 4.3).
 Each strand of DNA shows polarity (two ends are different).
The one is referred as 5’ end and the other is 3’ end.
 The two strands of DNA run in opposite directions.
 The strands are helically twisted where each strand forms a
right-handed coil.
 James Watson and Francis Crick discovered the double helix
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structure of a DNA molecule.
…Unit 4: Genetics

Figure 4.3 DNA Structure

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 …Unit 4: Genetics
Genes and chromosomes
What is the difference between gene, chromosome and DNA?
 Sections of a DNA that contain the set of instructions that
determine the characteristics of an organism are called genes.
 Genes are the basic structural and functional units of
inheritance.
 Genes pass from parents to offspring during both sexual and
asexual reproduction through cell division.
 Genes are located on chromosomes.
 A chromosome is a threadlike structure made of a DNA
molecule and proteins called histone (Figure 4.4).
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 …Unit 4: Genetics

Figure 4.4 Chromosome with DNA structure, histone protein and gene
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 …Unit 4: Genetics
 Each chromosome may contain hundreds to thousands of
genes that are arranged linearly along the length of each
chromosome (like beads on a string), with each gene
having its own unique position on to chromosomes called
locus / loci (plural).
 Chromosomes exist in pair in diploid organisms in which
one chromosome is always inherited from the mother
and the other from the father.
 For example a human cell contains 46 chromosomes
which exist in 23 pairs of chromosomes (Figure 4.5).

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 …Unit 4: Genetics

A karyotype is the
complete set of
chromosomes in a cell,
arranged and displayed in
a specific way. It shows
the number, size, and
shape of chromosomes,
which are typically
displayed in pairs.

Figure 4.5. Human Karyotype, male and female 17

 …Unit 4: Genetics
The Function of DNA
 The function of DNA is to store all of the genetic
information that an organism needs to grow, develop,
reproduce, control the cell and survive.
 While DNA determines the characteristics of an organism,
it is also responsible for carrying and transmitting the
hereditary materials or the genetic instructions from
parents to the offspring.
 The transmission of this information from the mother to
daughter cells occurs through the process of DNA
replication during cell division.
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 …Unit 4: Genetics
4.2.3 DNA replication
 DNA replication is the process by which DNA makes a
copy of itself during cell division.
 DNA replication is semiconservative, which means that
each strand in the DNA double helix acts as a template
for the synthesis of a new, complementary strand.
 In other words, the two original DNA strands separate
during replication; each strand then serves as a template
for a new DNA strand.
 Each newly synthesized double helix is a combination of
one old and one new DNA strand (Figure 4.6).
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 …Unit 4: Genetics

Figure 4.6 DNA replication

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 …Unit 4: Genetics
 Replication fork: is the Y-shaped structure that forms
during DNA replication. It occurs when the two strands of
the DNA double helix are separated by helicases to allow
each strand to be copied.
 Leading strand: the strand of new DNA, which is
synthesized in the same direction as the growing
replication fork.
 Lagging strand- the strand of new DNA whose direction
of synthesis is opposite to the direction of the growing
replication fork

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 …Unit 4: Genetics
 DNA replication involves the following enzymes.

Table 4.1 Enzymes and their functions

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 …Unit 4: Genetics
 There are three stages in DNA replication. These are:
 Stage one - the DNA helix structure is unwound and unzipped,
hydrogen bonds between bases break and the double helix
structure of the DNA molecule separate in to two strands.
 Stage two - The two separated strands act as templates for making
the new strands of DNA.
 DNA polymerase adds free DNA nucleotides using complementary
base pairing (A-T and CG).
 One of the strands is synthesized in the same direction as the
growing replication fork (leading strand).
 The other strand synthesizes opposite to the direction of the
growing replication fork (lagging strand).
 DNA polymerase adds nucleotides to the 3’-ended strand in a 5’ to
3’ direction. 23
 …Unit 4: Genetics
 Stage three- The two new strands twist to form a double
helix. Each is identical to the original strand.

4.2.2 The structure and function of RNA

The structure of RNA
 RNA has single strand structure.
 RNA contains the sugar ribose,
phosphates, and the nitrogenous bases
adenine (A), guanine (G), cytosine (C) and
uracil (U) which replaces thymine in DNA
(Figure 4.7). Figure 4.7 RNA Structure

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 …Unit 4: Genetics
 There are three most well-known types of RNA in all organisms.
 These are messenger RNA (mRNA), transfer RNA (tRNA) and
ribosomal RNA (rRNA).
 All types of RNAs are formed on DNA strands by transcription
process.
The function of RNA
 RNA is involved in a variety of functions within the cell.
 mRNA) – Carries genetic information from DNA to ribosomes for
protein synthesis.
 tRNA) – Helps in the translation of mRNA by bringing the correct
amino acids to the ribosome.
 rRNA) – Forms part of the ribosome and aids in protein synthesis.
 RNA functions as a storage of genetic information in some viruses.
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 …Unit 4: Genetics
4.3 The process of cell division
 Where do cells come from?
 How does your body repair its damaged parts?
 Growth and reproduction of organisms as well as
repairment of damaged body parts are possible because
of cell division.
 The information stored in the DNA transfers from one cell
to another cell and from generation to generation
through cell division.

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 …Unit 4: Genetics
4.3.1 Cell Division
 In cell division, each cell divides to make two cells and these two
cells then divide to make four cells, and so on.
 The process that repeats in this way is called the cell cycle.
 The cell cycle is an ordered series of events that involve cell growth
and cell division to produce new daughter cells (Figure 4.8).
 Cells on the path to cell division proceed through a series of
precisely timed and carefully regulated stages of growth.
 The replication and division of DNA produces two identical
daughter cells.
 The cell cycle has two major phases: interphase and mitotic phase
(M phase).
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…Unit 4: Genetics

Figure 4.8 The cell cycle 28

 …Unit 4: Genetics
The Interphase
 Interphase is the period of preparation for a cell to divide
and start the cell cycle.
 During interphase, the cell undergoes normal growth
processes, gathers nutrients and energy and prepares for
the cell division.
 The parent cell also makes a copy of its DNA to share
equally between the two daughter cells.
 The three stages of interphase are G1 (first gap stage), S
(synthesis stage), and G2 (second gap stage).

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 …Unit 4: Genetics
The G1 Phase (First Gap)
 G1 phase (first gap) is the first stage of interphase in which the cell
is quite active at the biochemical level.
 At G1phase, the cell accumulates the building blocks of
chromosomal DNA and the associated proteins as well as sufficient
energy reserves to complete the task of replicating each
chromosome in the nucleus.
 The G0 phase (resting phase), is a phase in which the cell is neither
dividing nor preparing to divide but performs regulatory and basic
cellular functions.
The S Phase (Synthesis of DNA)
 The S phase is a stage in which DNA replication proceeds to form
identical pairs of DNA molecules (sister chromatids) that are firmly
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attached to the centromeric region.
 …Unit 4: Genetics
 In this phase, the centrosome duplicates and centrioles develop to
help organize cell division.
G2 Phase (Second Gap)
 The G2 phase is a stage in which, the cell replenishes its energy
stores that exhausted during DNA replication at S-phase and
synthesizes proteins necessary for chromosome manipulation.
 In this phase, some cell organelles duplicate and the cytoskeleton
disintegrates to provide resources for the mitotic phase.
 The cell performs the final preparations for the mitotic phase to
enter the first stage of mitosis.
 After completing the interphase, the cell undergoes either mitotic
or meiotic cell divisions.

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 …Unit 4: Genetics
I. Mitosis
 Mitosis is the division of somatic cells.
 Somatic cells make up most of your body's tissues and organs,
including skin, muscles, lungs, gut, and hair cells.
 Mitosis undergoes multistep processes during which a cell
duplicates all of its contents, including its chromosomes and
organelles, which the duplicated chromosomes are aligned,
separated, and moved into respective poles then, two new
identical daughter cells produced.
 The first phase of the mitotic phase is called karyokinesis (the
nuclear division) and the second phase is called cytokinesis (the
physical separation of the cytoplasmic components into the two
daughter cells).
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 …Unit 4: Genetics
1. Prophase
 Prophase is the first step in
mitotic cell division in which
 the nuclear envelope starts
to dissociate into small
vesicles,
 chromosomes become more
condensed, discrete, and
visible through compound
microscope and
 centrosomes move to Figure 4.9 Prophase of Mitosis
opposite poles (Figure 4.9).

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 …Unit 4: Genetics
 Sister chromatids begin to
coil more tightly to develop
a kinetochore in the
centromeric region.
 Organelles such as the Golgi
complex, and endoplasmic
reticulum disperse toward
the periphery of the cell.
 At the end, the sister
chromatids will be attached
via their kinetochores to Figure 4.10 Chromosome with
kinetochore
spindle microtubules from
opposing poles (Figure 4.10).
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 …Unit 4: Genetics
2. Metaphase
 Metaphase is the second
step in the mitosis
process.
 All the chromosomes are
aligned at the
metaphase plate or the
equatorial plane, which
is at the middle of the
cell between the two
poles of the cell.
 The sister chromatids are
still tightly attached to
Figure 4.11. Metaphase of Mitosis
each other by cohesion
proteins (Figure 4.11).
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 …Unit 4: Genetics
3. Anaphase
 Anaphase is the third step in
which the sister chromatids
separate at the centromere
and are pulled rapidly
toward the centrosome to
which its microtubule is
attached.
 The connection between the
sister chromatids breaks
down and the microtubules
pull the chromosomes Figure 4.12 Anaphase of Mitosis
toward opposite poles
(Figure 4.12).
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 …Unit 4: Genetics
4. Telophase
 Telophase is the fourth step in which
the chromosomes reach the opposite
poles and begin to decondense
(unravel).
 The mitotic spindles are
depolymerized, the nuclear envelopes
form around the chromosomes and
nucleosomes appear within the
nuclear area.
 Cytokinesis is the final phenomenon
in which division of cell is completed
by the physical separation of the
cytoplasmic components resulting in
two genetically identical daughter Figure 4.13. Telophase of mitosis (top)
and Cytokinesis (bottom)
cells (Figure 4.13). 37
 …Unit 4: Genetics
II. Meiosis
Meiosis is another fundamental process for life.
Meiosis is the division that produces sex cells (gametes).
It has two phases, meiosis I and Meiosis II, each with their own
process.
During Meiosis I, a cell duplicates all of its contents and divides into
two daughter cells whereas it divides into four different daughter
cells with haploid number of chromosomes in Meiosis II.
Meiosis reduces the number of chromosome by half and produces
genetic variation through a process of crossing over and independent
assortment.
Meiosis cell division has eight stages (four stages for each meiosis).
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 …Unit 4: Genetics
A. Meiosis I
 In diploid organisms, chromosome exists in pairs each members
of the pair are called homologous chromosomes.
 In meiosis I, homologous chromosomes are separated into two
cells consisting of two chromatids in each daughter cell.
 Meiosis I is also called reduction division. Why?
1. Prophase –I
 Prophase I is the first step in part one of the meiosis stage in
which chromosomes replicate to form two sister chromatids.
 In this step, nuclear envelope also disintegrates, the
chromosomes begin to condense and spindle fibers appear.
 Spindle fibers are important for the successful division of
chromosomes in that they are attached to the chromosomes at
centromeres.
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 …Unit 4: Genetics
 In this phase, homologous chromosomes pair each other and
crossing over takes place between non-sister chromatids of
homologous chromosomes.
 During crossing over, homologous chromosomes exchange small
parts to each other so that one chromosome contains parts of
male and female DNA.
 This results in an increase in genetic variation (Figure 4.14).

Figure 4.14 Prophase I of Meiosis

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 …Unit 4: Genetics
2. Metaphase I
 Metaphase I is the second step in part one of the meiosis stage in
which the pairs of chromosome align next to each other along
the center (equator) of the cell.
 When the pairs of chromosomes line up randomly, they align
themselves on either side of the metaphase plate.
 The meiotic spindles extend from centrioles at opposites poles of
the cell and attach to one chromosome of each pair (Figure 4.15).

Figure 4.15 Metaphase I of Meiosis 41

 …Unit 4: Genetics
3. Anaphase I
 Anaphase I is the third step in part one of meiosis in which the
pair of chromosomes are then pulled apart by the meiotic
spindle.
 Each of the homologous chromosomes get pulled towards
opposite poles of the cell as the spindle fibers retract.
 This equally divides the DNA between the two cells to be formed.
 Unlike what happens in mitosis and meiosis II, the sister
chromatids stay together (Figure 4.16).

Figure 4.16 Anaphase I of Meiosis 42

 …Unit 4: Genetics
4. Telophase I
 Telophase I is the fourth step in part one of
meiosis in which the chromosomes complete
their move to the opposite poles of the cell.
 During this step, the spindle fibres disappear,
the full set of chromosomes gather together,
the nuclear envelope reforms and a
membrane forms around each set of
chromosomes.
 Cytokinesis is the final phenomenon of
Meiosis I in which the single cell pinches
in the middle to form two separate
daughter cells each containing a half set
of the parent chromosomes within a Figure 4.17 Telophase I of Meiosis
(top) and Cytokinesis (bottom)
nucleus (Figure 4.17). 43
 …Unit 4: Genetics
Meiosis II
1. Prophase II
 Prophase II is the first step in
part two of meiosis in which the
chromosomes condense again
into visible X shaped structures
in each of the two daughter cells.
 In this step, the membrane
around the nucleus in each
daughter cell dissolves away
releasing chromosomes, the
centrioles duplicate and the
meiotic spindle forms again.
 This stage is similar to prophase Figure 4.18 Prophase II of Meiosis
in meiosis I (Figure 4.18) 44
 …Unit 4: Genetics
2. Metaphase II
 Metaphase II is the second step
in part two of meiosis.
 Unlike metaphase I where
chromosomes line up in
homologous pairs, sister
chromatid line up end-to-end in
a single line along the equator of
the cell.
 Meiotic spindle fibers from the
centrioles at opposite poles
attach to each of the sister
chromatids (Figure 4.19) Figure 4.19 Metaphase II of Meiosis

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 …Unit 4: Genetics
3. Anaphase II
 Anaphase II is the third step in
part two of meiosis in which
sister chromatids are pulled to
opposite poles of the equator
due to the action of the meiotic
spindle.
 The separated chromatids are
now individual chromosomes
(Figure 4.20).

Figure 4.20 Anaphase II of Meiosis

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 …Unit 4: Genetics
4. Telophase II
 Telophase II is the fourth step in part two of meiosis in which
chromosomes complete their move to the opposite poles of the cell,
a membrane forms around each set of chromosomes.
 Cytokinesis is a phenomenon in which the cytoplasm and the cell
divides producing 4 non-identical haploid daughter cells (Fig 4.21).

Figure 4.21 Telophase II of Meiosis (left) cytokinesis (right) 47

 …Unit 4: Genetics
4.4 Protein synthesis
 Proteins are organic compound made of amino acids joined
together by peptide bonds.
 There are 20 different naturally occurring amino acids but each
protein is different in structure and function due to the sequence
in which these amino acids are arranged.
 Protein synthesis is the stepwise process of the production of
different types of proteins from amino acids.
 It involves DNA, RNA (mRNA, tRNA and rRNA), amino acids,
various enzymes and ribosome.
 DNA stores genetic information used to produce different
proteins.
 Messenger RNA (mRNA) transcribes genetic information from
DNA in the nucleus with the help of enzyme RNA polymerase. 48
 …Unit 4: Genetics
 Transfer RNA (tRNA) brings amino acids from the cytoplasm to the
ribosome and it translates the message within the nucleotide
sequence of mRNA to a specific amino acid sequence.
 Ribosomal RNA (rRNA) is a molecule in cells that forms part of the
ribosome that help translate the information in messenger RNA
(mRNA) into protein.
 Ribosomes are cytoplasmic organelles that translates the mRNA
template into a polypeptide chain.
 The process of protein synthesis involves the conversation of
instructions in DNA into a functional product (proteins) through
transcription and translation.
 Reverse transcription is a process in which a DNA molecule is
synthesized from an RNA template.
 These all process of biological information flow is called central
dogma (Figure 4.22). 49
…Unit 4: Genetics

Figure 4.22 The central dogma of life

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 …Unit 4: Genetics
Transcription
 Transcription is the synthesis of RNA molecules within the cell
nucleus with the code for a protein copied from the genetic
information contained in the DNA.
 In other words, transcription produces an exact copy of a section of
DNA known as messenger RNA (mRNA).
 mRNA carries complementary genetic code copied from DNA
during transcription, in the form of triplets of nucleotides called
codons.
 A codon is a sequence of three nucleotides that encodes a specific
amino acid.
 For example, amino acid tryptophan is coded by a codon TAG,
alanine by GCA, GCC, glycine by GGA, AGG, etc for each 20 amino
acids.
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 …Unit 4: Genetics
 There are only 20 naturally existing amino acids but
the number of possible nucleotide combination is 43
= 64 triplets.
 Out of the 64 codons, three are stop codons, which
stop the process of protein synthesis (UAG, UAA, and
UGA) and one of the codons is an initiator codon or
start codon that initiates protein synthesis (AUG).
 Use the following figure to identify the triplets for all
amino acids (Figure 4.23).

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…Unit 4: Genetics

Figure 4.23 The genetic code

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 …Unit 4: Genetics
During Transcription:
 Inside the nucleus a small portion of the DNA double
strand separate
 Free RNA nucleotides attach to appropriate base pairs
on the DNA template and mRNA is formed with code
(codons) for protein synthesis. Similarly, tRNA and
rRNA also transcribed from DNA.
 mRNA detaches from the DNA
 mRNA leaves the nucleus to go out into the cytoplasm
and binds to ribosomes
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 …Unit 4: Genetics
Translation
 Translation is the synthesis of protein from the building blocks
of protein /amino acids/ based on the genetic information
instructed on mRNA with the help of rRNA, tRNA and enzymes.
 Transfer RNA (tRNA) carries a specific amino acid from
cytoplasm.
 This tRNA contains an anticodon which is three nucleotides
long that is complementary to the three nucleotides long
genetic codon on the mRNA.
 The anticodon on tRNA enables to recognize the codon of
mRNA through complementary base pairing.

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 …Unit 4: Genetics
 For example, the tRNA for the amino acid valine has an
anticodon (CAC) that is complementary with mRNA codon
(GUG).
 The tRNA acts as an adapter, bringing the specific amino
acid based on base complementarily (Figure 4.24).
 The complementary bases on the codon and anticodon
held together by hydrogen bonds to form peptide bond in
growing protein chain.
 The ribosome guides the tRNA to bind to the mRNA if it is
carrying an amino acid.

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 …Unit 4: Genetics
During Translation:
1. mRNA carries the information from DNA align on the ribosome in
the cytoplasm
2. The ribosomes attach on to mRNA and let the tRNA loaded with
specific amino acid to enter
3. tRNA with anti-codon brings amino acids from the cytoplasm to
the ribosomes
4. The anti-codon of tRNA pairs with the codon of mRNA on the
ribosome
5. the information in messenger RNA (mRNA) translated into
protein with the help of rRNA
6. A polypeptide chain of amino acids will then form a protein
(Figure 4.24)
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 …Unit 4: Genetics

Figure 4.24 Transcription and translation in protein synthesis.

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 …Unit 4: Genetics
4.5 Mendelian Inheritance
 An Austrian monk Gregor Mendel first
explained the way in which characteristics
of organisms are passed from one
generation to the next generation in the
middle of the 19th century.
 He performed crossing experiments with
garden pea (Pisum sativum) and discovered
two foundational principles of inheritance
(law of segregation and law of
independent assortment) and established
different terminologies used in genetics,
such as factors (genes, alleles), dominant,
recessive, genotype, homozygous,
heterozygous, phenotype, etc. 59
 …Unit 4: Genetics
Important terms:
 Genotype: is the genetic makeup of an organism.
 Phenotypes: is the physical expression of these genes.
 Allele: is a variant form of a gene.
 Homozygous: An organism is homozygous for a gene if it has
two identical alleles for that gene (e.g., AA or aa).
 Heterozygous: An organism is heterozygous for a gene if it has
two different alleles for that gene (e.g., Aa).
 Test-cross: is a method to detect whether an organism showing
the dominant phenotype is homozygous or heterozygous.

 How did Mendel discover the two principles of inheritance?

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 …Unit 4: Genetics
 Mendel studied the following seven different characters of pea
plants with contrasting traits that exist in two forms.
Table 4.2 the seven pairs of pea traits; traits in the first row are
dominant and traits in the second row are recessive.

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 In order to determine the mechanism of inheritance of these
seven pairs of contrasting traits/characteristics from parents to
offspring, Mendel conducted different types of crosses such as
monohybrid crosses, dihybrid crosses and test crosses.
4.5.2 Monohybrid cross
 A monohybrid cross is a cross between two parents to study the
inheritance of a single character.
 Mendel performed seven types of monohybrid crosses, each
involving contrasting traits for different characteristics.
 Mendel first conducted a self-cross, that is, tall with tall, dwarf
with dwarf, violet with violet, etc., to verify the purity of plants
in which a tall plant produces only tall offspring in successive
crosses, and a dwarf plant produces only dwarf plants.
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 He did the same self-cross for all the traits (14 traits).
 He found that the seven pea plant characteristics were
consistent in generation after generation of self-fertilization, and
they were considered pure lines/true lines.
 Then, he cross-pollinated two pure lines for contrasting
characters and the resultant offspring were called the F1
generation (first filial generation).
 In this generation, one of the traits was always seen in the
offspring but not the other one.
 The F1 generations were then self-pollinated which gave rise to
the F2 generation (second filial generation).

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 In the F2 generation, both traits were observed.
 Mendel counted the number of F2 progeny with dominant or
recessive traits and found a 3:1 ratio of dominant to recessive
traits.
 This means when the F1 generation self-crossed, he observed
that three of the offspring out of four were phenotypically the
same whereas one was different.
 He called the characters that appear in the F1 generation
dominant traits and those that appear for the first time in the F2
generation recessive traits.

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 He used capital letters to denote the dominant allele of a gene
and small letters for recessive alleles of a gene.
 His cross can be easily shown through a Punnett Square.
 A Punnett square is a chart used to determine the expected
ratios (probabilities) of the possible genotypes and phenotypes
in the offspring of two parents.
 The following example shows the monohybrid cross for tall
plants with homozygous dominant genotype (TT) and
dwarf/short plants with homozygous recessive genotype (tt)
using Punnett square.
 The first column and row show parental generation.

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 The second column and row show the gametes of the two
plants.
 The box shows the first hybrid generation or F1 generation with
genotype (Tt).
 All offspring (F1) are Tt, possessing the dominant tall gene (T)
and the recessive short gene (t).
 The phenotype of the F1 generation is tall and the genotype is
heterozygote dominant.

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 Mendel self-crossed the F1- first hybrid generation (Tt) and
obtained both tall and short plants.
 The box shows the second filial generation or F2 generation with
genotypes TT, Tt, Tt and tt, with a genotypic ratio of 1:2:1 and a
phenotypic ratio 3:1.
 In other words, the phenotype of the F2 generation is 3 tall and
1 short and the genotype is 1 TT, 2 Tt and 1 tt.

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Table 4.3 Results of Gregor Mendel’s monohybrid crosses

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To explain the results of monohybrid crosses, Mendel proposed
the existence of unit factors (genes) for each trait.
He derived the following 3 postulates or principles of inheritance.
 Unit factors in pairs -genetic characters (eg. pea height) are
controlled by unit factors that exist in pairs in individual organisms.
 Dominance/Recessiveness -when two unlike unit factors
responsible for a single character are brought together by
fertilization, only one (dominant trait) expresses itself masking the
expression of the other (recessive trait).
 Segregation -during the formation of gametes, the paired unit
factors separate or segregate randomly so that each gamete
receives any one of the factors.
This is referred as Mendel’s first law or the law of segregation.

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The Law of Segregation
 In essence, the law states that copies of genes
randomly separate or segregate during meiosis so that
each gamete receives only one allele.
 The physical basis of Mendel’s law of segregation is the
first division of meiosis in which the homologous
chromosomes with a version of each gene (allele) are
segregated into daughter nuclei.
 As chromosomes separate into different gametes
during meiosis, the two alleles for a particular gene
also segregate so that each gamete acquires one of the
two alleles (Figure 4.27).
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Figure 4.27 Segregation of maternal and paternal alleles into separate gametes
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4.5.3 Dihybrid Cross
 A dihybrid cross is a cross in which two characters are examined
simultaneously.
 For example, the cross between round-yellow seed (RRYY) and
wrinkled-green seed (rryy) resulted in all round yellow seeds
(RrYy). This is the F1 generation.
 The outcome of the cross between F1 generations (RrYy x RrYy)
resulted in round-yellow, wrinkled-yellow, wrinkled-green and
round-green, as follow. This is the F2 generation.
F2 generation
 Phenotype
 Round Yellow = 9
 Round green = 3
 Wrinkled Yellow = 3
 Wrinkled green = 1
 9:3:3:1phenotypic ratio 72
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The Law of Independent Assortment
 The Law of independent assortment is the second Mendel’s law
of heredity which states that genes do not influence each other
with regard to the sorting of alleles into gametes.
 This indicates that every possible combination of alleles for every
gene is equally likely to occur.
 According to this law, the separate genes for separate traits are
passed independently of one another from parents to the
offspring.
 Independent assortment occurs in metaphase I of meiosis when
pairs of chromosomes randomly align at the metaphase plate.
 For example, when gametes are formed in YyRr heterozygote pea
plant, R & r segregate independent of the segregation of Y & y.
 Hence, four equally likely gametes (YR, Yr, yR, & yr) can be
formed. 73
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Figure 4.28 Independent assortment of alleles during gametes formation

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4.5.4 Test Crosses
 Another cross that was introduced by Gregor Mendel is a
testcross.
 A test cross is used to determine the unknown genotype of an
individual showing the dominant phenotype by crossing it with
an individual showing the recessive phenotype.
 For example, when we cross a known parent of a homozygous
recessive with an unknown parent and if the dominant trait is
observed in all progenies, the unknown genotype is
homozygous.
 In contrast, when we cross a known homozygous recessive with
an unknown parent and if the recessive trait is manifested in
any of their progenies, it means that the unknown genotype is
heterozygous.
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 For example, if you have a pea plant with a purple flower it
might be either a homozygote (PP) or a heterozygote (Pp).
 You can cross a purple flower to a white flower plant, because
you know the genotype of a white flower plant is homozygous
recessive (pp).
 If the phenotypic ratio in the F1 generation were all plants with
purple flowers, the unknown genotype of the parent would be
homozygous (PP).
 If the phenotypic ratio in the F1 generation were 1:1, the
unknown genotype of the parent would be heterozygouse (Pp).
 The following figure (Figure 4.29) shows the cross using Punnett
square.

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Figure 4.29 Test cross All purple or 2 purple: 2 white = 1:1 phenotypic ratio

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