GENETICS LECTURE

BFGNXLEC HISTORY OF GENETICS

What is Genetics? 3. Law of Dominance

- Genetics is the study of heredity, the o Some alleles are dominant
process in which a parent passes certain (expressed) while others are
genes onto their children. It means that recessive (hidden in F1 but
these children inherit their biological reappear in F2).
parent’s genes that express specific traits, TERMINOLOGIES
such as some physical characteristics,
natural talents and genetic disorders. ➢ Genes – hereditary factors responsible for
traits
Mendel: Genes and the Rules of Inheritance ➢ Alleles – different forms (versions) of
(1866) hereditary factors (genes)
➢ Traits – physical characteristics brought
Gregor Mendel about by the expression of a gene or many
genes.
- An Austrian monk (1822–1884) who ➢ Homozygous – two identical alleles (TT or
studied how traits are passed from tt).
parents to offspring. ➢ Heterozygous – two different alleles (Tt).
- Conducted experiments on pea plants ➢ Genotype – genetic makeup.
from 1856–1863. ➢ Phenotype – observable trait.
- Discovered the basic laws of inheritance. ➢ Locus – specific location of a gene (DNA
sequence) on a chromosome
Why he used pea plants? ➢ Chromosome - nucleoprotein structure
- Have many contrasting traits (e.g., tall vs. observed during cel division
short, green vs. yellow seeds). ➢ Mitosis- one (single) cel division producing
- Easy to grow and control pollination. two identical daughter cels
- Short generation time. ➢ Meiosis- two cel divisions resulting in 4
cels not genetically identical
Mendel’s Experiments ➢ Genome – the collection of DNA
1. Cross-pollinated plants with different molecules that is characteristic of an
traits (e.g., tall × short). organism.
2. Observed F1 generation (first generation of ➢ Genomics – is the analysis of DNA
offspring) – all plants showed only one sequences that make up a genome. It
trait (dominant). involves DNA sequencing technology,
3. Let F1 plants self-pollinate → F2 robotics, and computer science.
generation appeared with both traits in a ➢ Proteomics- The interactions among
3:1 ratio. polypeptides and among different proteins
and the functions of these comple
Mendel’s Laws molecules.
1. Law of Segregation
o Each organism has two alleles for Rules of Inheritance
each trait. 1. Alleles of the same gene separate during
o These alleles separate during gamete formation.
gamete formation, so each gamete 2. Alleles of different genes are inherited
gets only one allele. independently.
2. Law of Independent Assortment
o Alleles for different traits are
inherited independently of each
other.

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Watson and Crick: The Structure of DNA (1953) ▪ Cytosine (C) pairs with
Guanine (G) → 3 hydrogen
- James Watson (American biologist) and bonds
Francis Crick (British physicist) discovered ➢ This pairing is complementary and
the double helix structure of DNA. keeps the helix stable.
- Built on X-ray diffraction data from
Rosalind Franklin and Maurice Wilkins.
- Their model explained how genetic Nucleotides are linked in a chain through sugar-
information is stored and copied. phosphate interactions

Note: - DNA molecules are

▪ Genes were shown to consist of complex made of two
molecules called nucleic acids. chains of
▪ Nucleic acids are made of building blocks nucleotides wound
called nucleotides. around each other
▪ Each nucleotide has three components: 1 in a helix.
a sugar molecule; a phosphate molecule - Base pairs hold the
and a nitrogen containing molecule, which chains together
has slightly basic chemical properties.
Key Insights from Watson & Crick’s Model
Structure of DNA • Complementary base pairing explains DNA
replication.
1. Basic Unit – Nucleotide • Sequence of bases stores genetic
Made of: information.
▪ Sugar (deoxyribose) • The model showed how genes are
▪ Phosphate group encoded and passed on.
▪ Nitrogenous base (Adenine, The Human Genome Project: Sequencing DNA
Thymine, Cytosine, and Cataloguing Genes
Guanine)
2. Sugar-Phosphate Backbone - An international scientific effort to map
▪ Nucleotides are linked in a and understand all the genes of humans.
chain through sugar– - Goal: Sequence the entire human DNA
phosphate bonds (about 3 billion base pairs) and identify all
(phosphodiester bonds). human genes.
▪ This forms the backbone of - Started: 1990
the DNA molecule. - Completed: 2003 (ahead of schedule and
3. Double Helix under budget)
▪ DNA has two chains of - Led by: U.S. National Institutes of Health
nucleotides. (NIH) and Department of Energy, with
▪ These chains twist around global partners.
each other like a spiral
staircase. Goals
4. Base Pairing 1. Sequence all DNA in the human genome.
➢ Bases from opposite strands are 2. Identify and map all human genes.
paired via hydrogen bonds: 3. Store this information in public databases.
▪ Adenine (A) pairs with 4. Develop tools for data analysis.
Thymine (T) → 2 hydrogen 5. Address ethical, legal, and social
bonds implications (ELSI).

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Major Achievements of things like radiation or chemicals. Some

• Completed a genetic “blueprint” of mutations have no effect, some can cause
humans. diseases, and others can create new traits that
• Found humans have about 20,000–25,000 help organisms adapt. There are different types
genes. of mutations like substitution, insertion, and
• Identified locations and sequences of deletion. Mutation is also important in evolution
many disease-related genes. because it introduces genetic variation.
• Advanced DNA-based diagnostics and
therapies. ▪ Mutations can occur naturally or due to
environmental factors (radiation,
Importance of this: chemicals).
The Human Genome Project has greatly ▪ Can lead to genetic variation, which is
advanced science by helping researchers important for evolution, but may also
understand genetic diseases and paving the way cause genetic disorders.
for personalized medicine tailored to an
individual’s genetic makeup. It has also enhanced Types of Mutation
the study of evolution and human history by
revealing patterns and relationships in our DNA. 1. Substitution - One base is replaced by another.
In addition, the project has provided valuable Example: A changes to G can cause small changes
tools for biotechnology and forensic science, in a protein — or sometimes no effect at all.
enabling innovations in genetic engineering,
diagnostics, and criminal investigations. 2. Insertion- An extra base is added into the
sequence.
DNA as the Genetic Material Example: ATC -> ATGC can cause a frameshift —
changing the whole message.
DNA is the molecule that carries the genetic
instructions for the growth, development,
functioning, and reproduction of all living
organisms. 3. Deletion - A base is removed or lost.
Example: ATC -> AC can also cause a frameshift,
Replicates which often leads to major changes in proteins.
▪ DNA can make an exact copy of itself.
▪ Ensures that genetic information is passed 4. Duplication - A section of DNA is copied and
accurately from cell to cell and from repeated.
generation to generation. Example: A gene appears twice can lead to extra
▪ Uses complementary base pairing (A–T, protein or disorders.
C–G) during replication.
5.Inversion - A piece of DNA is flipped or reversed.
Stores Example: ATCG -> GCTA may affect gene function
▪ Holds the complete set of instructions depending on where it happens.
(the genome) for building and maintaining
an organism. 6. Translocation - A piece of DNA moves to a
▪ The sequence of nitrogenous bases different location or chromosome.
encodes the genetic information. Example: DNA from one chromosome switches
with another. can cause cancer or genetic
Mutates diseases.

Mutation is a change in the DNA sequence. It Relation to genetic code

can happen when DNA is being copied or because

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Mutations are related to the genetic code Easy way to remember: Rats Dance
because the genetic code is made of DNA RNA → DNA (instead of the usual DNA → RNA)
sequences, and mutations change those
sequences. If a mutation happens in a gene, it can
change the instructions for making a protein. That DNA Replication (duplication)
can lead to a different trait, a disorder, or
To make an exact copy of DNA so that each new
sometimes no change at all. So, mutation affects
how the genetic code is read and used by the cell. cell gets the same genetic information.

The Central Dogma of Molecular Biology

1. DNA Unzips
▪ Shows how genetic how genetic
information flows in cells. ▪ The two strands of DNA are held
by weak hydrogen bonds (A with
Normal Flow of information T, G with C).
(Forward Direction) ▪ These bonds are broken,
separating the strands.
▪ Through DNA replication and expressed
through transcription and translation
2. Strands Act as Templates (When
➢ DNA – your genetic blueprint.
➢ Transcription – DNA is copied into separated)
RNA (messenger RNA). ▪ Each old strand guides the building of
➢ Translation – RNA is used to build
a new complementary strand.
a polypeptide (protein, made of
▪ Base-pair rule:
amino acids).
A→T
T→A
Easy way to remember: Dogs Run Playfully
G→C
DNA → RNA → Protein
(Blueprint → Message→ Product) C→G

Reverse Flow (Special Cases) 3. New Strands Are Built

▪ Nucleotides are added one by one,

▪ In reverse translation, RNA is used as a
matching the template strand.
template for the synthesis of DNA
▪ In some viruses (like HIV), RNA is turned 4. Two Identical DNA Molecules
back into DNA.
▪ This is called Reverse Transcription. ▪ Each has one old strand + one
▪ Enzyme used: Reverse Transcriptase. new strand (called semi-
conservative replication).

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Points to Remember: 2. Translation (mRNA → Polypeptide)

• The mRNA is read by ribosomes in sets of
▪ DNA replication is very accurate — three nucleotides called codons.
almost no mistakes. • Each codon specifies a particular amino
acid to be added to the growing
▪ Enzymes do the work (like DNA
polypeptide chain.
polymerase).
• Translation begins with a start codon (AUG
• Happens before cell division so each — methionine) and ends with a stop
daughter cell gets the same DNA. codon, which signals termination.
• After synthesis, the polypeptide may
Mnemonic: undergo modifications such as removal of
Unzip → Match → Build → Duplicate the initial methionine.
UMBD — think “Umbrella for DNA protection”
Key Concepts
• Gene: A DNA segment that codes for a
Gene Expression: Using Genetic Information specific polypeptide or functional RNA.
(In gene expression, DNA is transcribed into mRNA, • Codon: A sequence of three nucleotides in
which is then translated into a polypeptide that folds mRNA that specifies an amino acid.
into a functional protein)
• Polypeptide: A linear chain of amino acids
that folds into a functional protein.
• Protein: The final functional product that
performs cellular activities.

Mutation: Changing Genetic Information

Gene expression is the process by which the
information stored in DNA is used to produce a
functional product, usually a protein. It occurs in
two main stages:

1. Transcription (DNA → mRNA)

• A specific gene in the DNA is used as a
template to synthesize a complementary
strand of messenger RNA (mRNA).
• This process takes place in the nucleus (in
eukaryotes).
• The mRNA is a temporary, working copy of
the genetic information that can be
transported out of the nucleus.

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BFGNXLEC HISTORY OF GENETICS

▪ When DNA replicates, each strand of a ▪ Evolution depends on the occurrence,

duplex molecule serves as the transmission, and spread of mutant genes
template for the synthesis of a in groups of organisms.
complementary strand. ▪ DNA sequence data provide a way of
▪ When genetic information is studying the historical process of
expressed, one strand of a gene's DNA evolution.
duplex is used as a template for the
synthesis of a complementary strand Levels of Genetic Analysis
of RNÄ.
▪ For most genes, RNA synthesis ➢ CLASSICAL GENTICS
(transcription) generates a molecule In classical genetic analysis, genes are
(the RNA transcript) that becomes a studied by following the inheritance of
messenger RNA (mRNA). traits in crosses between different strains
▪ Coded information in an mRNA is of an organism.
translated into a sequence of amino
acids in a polypeptide. ➢ MOLECULAR GENETICS
▪ Mutations can alter the DNA sequence In molecular genetic analysis, genes are
of a gene. studied by isolating, sequencing, and
▪ The genetic variability created by manipulating DNA and by examining the
mutation is the basis for biological products of gene expression.
evolution.
➢ POPULATION GENETICS
Genetics and Evolution In population genetic analysis, genes are
studied by assessing the variability among
▪ Variation in the DNA sequence makes it individuals in a group of organisms.
possible for species to evolve over time.
▪ Organisms with similar DNA sequences are
descended from a common ancestor

A phylogenetic tree

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Genetics in the World: • Example: BT corn – carries a gene from

Bacillus thuringiensis (BT), producing a
Agriculture: Selective Breeding toxin harmful to certain insects.

4. BT Corn
• BT toxin kills pests like the European corn
borer.
• Reduces crop damage and acts as the
plant’s built-in pesticide.
• Resistance comparison:
o Resistant plants (expressing BT
gene) show no pest damage.
o Susceptible plants suffer severe
stalk damage.

5. Controversies and Concerns

1. Domestication and Selective Breeding
• Some regions (Africa, Europe) reluctant to
• Domestication changes traits in plants
adopt GMOs due to:
and animals compared to their wild
o Conflicts between small farmers
ancestors (e.g., cattle, corn).
and large agricultural corporations.
• Selective breeding programs aim to
o Environmental concerns (effect on
improve yield, resistance, and other
non-pest species like butterflies
desired traits.
and honeybees).
• Applied to both plants (wheat, corn, rice) o Consumer concerns about GMO
and animals (beef/dairy cattle, swine, food safety.
sheep).
• Policymakers debate how to regulate and
• Horticultural plants (shade trees, turf manage these technologies.
grass, flowers) also benefit from breeding.
6. Key Terms to Remember
2. Molecular Genetics in Agriculture
• Selective breeding – choosing parents
• From the 1980s onwards, molecular with desired traits.
genetics supplemented/replaced classical
• Genetic mapping – locating genes on
breeding.
chromosomes.
• Genetic maps of species identify traits of
• Genome sequencing – determining the
agricultural importance (e.g., grain yield,
complete DNA sequence.
disease resistance).
• GMO – organism genetically altered using
• Genome sequencing projects help find and
molecular techniques.
study potentially useful genes.
• BT toxin – insecticidal protein from
• Allows more targeted breeding programs.
Bacillus thuringiensis.
• European corn borer – pest targeted by BT
3. Genetic Modification (GMOs)
corn.
• Genetic engineering introduces genes
from other species into crops and
livestock.
• GMO definition: Genetically modified
organism—altered using recombinant DNA
technology.

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o Examples: human insulin, human

Genetics in Medicine growth hormone.
o Benefits: large-scale, pure production;
1. Classical Genetics in Medicine helps treat conditions like dwarfism.
• Inherited diseases are caused by mutant
genes. 5. Human Gene Therapy
• Sir Archibald Garrod (1909) – described • Method: insert a healthy copy of a gene into
"inborn errors of metabolism" (e.g., diseases cells of an individual with a defective gene.
caused by defective enzymes due to mutant • Goal: correct genetic defects at the DNA level.
alleles). • Example targets: Cystic fibrosis (CFTR gene),
• Physicians learned to: Severe Combined Immunodeficiency (SCID).
o Diagnose genetic diseases. • Process often uses stem cells (e.g., bone
o Trace them through families. marrow stem cells) which can later
o Predict the risk for future generations. differentiate into target tissues.
• Genetic counselors help families understand • Current status: mixed success, ongoing
and manage inherited disease risks. research.

2. Rare and Common Genetic Diseases 6. Key Terms

• Rare genetic diseases: e.g., Phenylketonuria • Genetic counselor – professional who advises
(PKU) – occurs in ~1 in 10,000 newborns. on inherited disease risks.
• Common diseases with genetic contribution: • Inborn errors of metabolism – rare disorders
Heart disease, cancer. caused by defective enzymes.
• Genes can also influence risk for multifactorial • BRCA1 gene – mutation increases breast
diseases. cancer risk.
• Recombinant DNA technology – produces
3. Molecular Genetics in Disease Detection human proteins in microorganisms.
• DNA-based diagnostics now allow rapid • Gene therapy – insertion of functional genes to
detection of mutant alleles. treat disease.
• Example: BRCA1 gene mutation → greatly • Stem cells – undifferentiated cells used in
increases risk of breast cancer. therapy.
• Early detection allows preventive actions (e.g.,
prophylactic mastectomy).
• Raises ethical concerns about genetic
information use.

4. Molecular Genetics in Disease Treatment

• Recombinant protein production:
o Old method: proteins like insulin
obtained from animals (e.g., pigs).
o Modern method: human proteins
produced in bacterial cells using
recombinant DNA.

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Genetics in Society

Role of Genetics in Modern Society

• Heavy reliance on technology from basic
science research, including genetics.
• Applications in manufacturing, service
industries, and health care.
Economic Impact
• Genetics research drives biotechnology
industry growth.
• Examples: diagnostic tests, DNA profiling,
medical services, and drug development.
Legal and Forensic Uses
• DNA analysis used to identify individuals,
determine guilt or innocence, establish
paternity, and analyze inheritance.
• Widespread courtroom use globally.
Ethical, Social, and Philosophical Implications
• Genetics raises existential questions: identity,
nature vs. nurture, behavior influence, talent
distribution, and justice.
• Concerns about how genetic knowledge
shapes social values, equality, and personal
responsibility.
Key Points Highlighted
• Genetic discoveries are changing agriculture
and medicine.
• Advances raise ethical, legal, political, social,
and philosophical issues.

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