Chapter 1: Introduction to Genetics

L E C T U R E C O N C E P T S

Genetics has a rich and interesting history

Genetics progressed from Mendel to DNA
in less than a century
Molecular genetics discovery of double helix
Development of Recombinant DNA
technology
Study of genetics and model organisms

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PowerPoint & Lecture: Adrian Lui Dasigo

1.1 Genetics and its uses

As a medical allied health students, why do you need to

study genetics?

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1.1 Genetics and its uses

As a medical allied health students, why do you need to

study genetics?

Genetic research is helping to find cure for genetic diseases.

Genetic research improves crop yield.
Genetic research contribute to our understanding of evolution.

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1.1 Genetics and its definition

Genetics: Study of heredity

and variation of inherited
character.
Heredity: Study of heredity
and variation of inherited
character.
Variation: Tendency of
offspring to vary from their
parents.

Side by side comparison of the parent (left) and his kid (right)

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 1.1 Genetics Has a Rich and Interesting
History

1600-1850: The Dawn of Modern Biology

Preformation: theory which stated that the
sperm or fertilized egg contains a complete
miniature adult known as homunculus.
Homunculus: a sperm containing a miniature
adult; perfect in proportion and fully formed

Figure 2: Depiction of homunculus

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1.1 Genetics Has a Rich and Interesting
History

1600-1850: The Dawn of Modern Biology

1830: Matthias Schleiden and Theodor Schwann proposed the
cell theory.
Cell theory: states that all organisms are composed of basic
structural units called (?)
Spontaneous generation: was disproved by Louis Pasteur;
living organisms were then considered to be derived from
preexisting organisms.

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1.1 Genetics Has a Rich and Interesting
History
Testing the Theory of Spontaneous Generation:

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1.1 Genetics Has a Rich and Interesting
History

Pasteur's Experiment:

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1.1 Genetics Has a Rich and Interesting
History

Charles Darwin and Evolution

1859: Theory of evolution was proposed by Charles Darwin on
"The Origin of Species"
Theory on "Pangenesis"

Alfred Russel Wallace - proposed the theory on natural

selection which is based on the observation of the population.

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1.1 Genetics Has a Rich and Interesting
History
Theory of Natural Selection:

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1.1 Genetics Has a Rich and Interesting
History

1600-1850: The Dawn of Modern Biology

1866: Gregor Johann Mendel published a paper showing how
traits were passed from generation to generation in pea
plants
Early part of 20th century: Heredity and development were
dependent on genetic information residing in genes
contained in chromosomes.

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1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century

Mendel's Work on Transmission of Traits:

Gregor Johann Mendel conducted a decade long series of
experiment involving pea plants.
This experiment showed that traits are passed from parents to
offspring in predictable ways.
Each trait in the plant is controlled by a pair of factors and
that during gamete formation, members of gene pair
separate from each other.

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1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century
Mendel's Work on Transmission of Traits:

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1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century

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1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century
The Chromosome Theory of Inheritance: Uniting
Mendel and Meiosis
Mitosis: Chromosomes are copied and distributed so that
each daughter cell receives a diploid set of chromosomes
identical to parent cell.

Meiosis: Cells produced by meiosis receive only one

chromosome from each chromosome pair, and the resulting
number of chromosomes is called haploid number.

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1.2
1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century
Genetic Variation
Chromosome theory of inheritance: explains how genetic
information is transmitted from generation to generation.
Scientists began studying the inheritance of traits in the fruit
fly, Drosophila melanogaster.

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1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century
Genetic Variation
A white-eyed fly was discovered
among wild-types.

This was produced by a mutation

in one of the genes controlling
eye color.

Mutation - defined as any heritable

change in the DNA sequence and
are the source of all genetic
The white-eyed mutation in D. melanogaster (left) and
variation. the normal red eye color (right)

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1.2 Genetics Progressed from Mendel to
DNA in Less Than a Century

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1.3 The Discovery of the Double Helical
Structure of the DNA
The Structure of DNA and RNA
The double helical structure was discovered by James Watson
& Francis Crick in 1953.
The structure is described as a long, ladder-like molecule that
"twists" to form a double helix.

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1.3 The Discovery of the Double Helical
Structure of the DNA
The Structure of DNA and RNA
Each linear strand of the helix is
made up of subunits called
nucleotides.
Each nucleotide is consist of:
Nitrogenous base group
Phosphate group
Sugar group

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1.3

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1.3 The Discovery of the Double Helical
Structure of the DNA
Gene Expression: From DNA to Phenotype
Transcription: a process in which the nucleotide sequence
in one strand of DNA is used to construct a complementary
RNA sequence.
Translation: Synthesis of RNA to amino acids which forms
proteins.

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1.3 The Discovery of the Double Helical
Structure of the DNA
Gene Expression: From DNA to Phenotype

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1.3 The Discovery of the Double Helical
Structure of the DNA

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1.3
1.3 Quick Exercise!
Identify the correct nitrogenous pair in each given number.

DNA STRAND
Adenine =
Thymine =

RNA STRAND:
Adenine =
Guanine =

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1.3 Quick Exercise!
Identify the correct nitrogenous pair in each given number.

DNA STRAND
Adenine =Thymine
Guanine = Cytosine

RNA STRAND:
Adenine =
Guanine =

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1.3 Quick Exercise!
Identify the correct nitrogenous pair in each given number.

DNA STRAND
Adenine =Thymine
Guanine = Cytosine

RNA STRAND:
Adenine = Uracil
Guanine = Cytosine

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1.3 The Discovery of the Double Helical
Structure of the DNA
Proteins and Biological Functions:
Proteins: are the end products of gene expression.
Amino acids: are the building blocks of proteins

Proteins are molecules with the potential for enormous structural

diversity and serve as the mainstay of biological systems.

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1.3 The Discovery of the Double Helical
Structure of the DNA
Classification of Proteins based on functions
Catalytic proteins - enzymes

Regulatory proteins - Hormones

polypeptides and small proteins found in relatively lower concentrations in animal
kingdom but play highly important regulatory role in maintaining order in complex
metabolic reactions.

Protective proteins - antibodies

proteins combile with foreign protein and other substances fight against certain
diseases. Example includes: Immunoglobulin

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1.3 The Discovery of the Double Helical
Structure of the DNA
Classification of Proteins based on functions
Catalytic proteins - enzymes
Are called as enzymes which represents the largest class of proteins. Nearly 2000
different kinds of enzymes are shown, each have a catalyzing effect with different
kinds of reactions. They enhance the reaction rates a million fold.

Regulatory proteins - Hormones

polypeptides and small proteins found in relatively lower concentrations in animal
kingdom but play highly important regulatory role in maintaining order in complex
metabolic reactions.

Protective proteins - antibodies

proteins combile with foreign protein and other substances fight against certain
diseases. Example includes: Immunoglobulin

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1.3 The Discovery of the Double Helical
Structure of the DNA
Linking Genotype to Phenotype: Sickle-Cell
Anemia
Sickle-cell anemia: caused by a
mutant form of hemoglobin.
Hemoglobin: a protein made up of a-
globin and b-globin (each encoded by
a different gene)

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1.3 The Discovery of the Double Helical
Structure of the DNA
Linking Genotype to Phenotype: Sickle-Cell
Anemia
In sickle-cell anemia, a mutation in the gene encoding b-
globin causes an amino acid substitution in 1 of 146 amino
acids in the protein.

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1.3 The Discovery of the Double Helical
Structure of the DNA
Sickle-cell anemia mutation:

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1.3
1.3 The Discovery of the Double Helical
Structure of the DNA
Sickle-cell anemia mutation:

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1.3 The Discovery of the Double Helical
Structure of the DNA
Sickle-cell anemia mutation:

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1.3 The Discovery of the Double Helical
Structure of the DNA
Linking Genotype to Phenotype: Sickle-Cell
Anemia
The mutation caused a change in codon 6 in mRNA which
change the amino acid code from GAG to GUG changing
amino acid in B-globin from glutamic acid to valine.
This cause hemoglobin molecules in RBC to polymerize
when the blood's oxygen concentration is low, distorting
the shape of red blood cell.

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1.3 The Discovery of the Double Helical
Structure of the DNA

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1.4 Development of Recombinant DNA
Technology
The Era of DNA Cloning
This began in the early 1970s when researchers discovered
that bacterial proteins called restriction endonucleases,
which cut the DNA of invading viruses can also be used to
cut ANY organism's DNA.
DNA fragments -> vectors -> reproduce recombinant DNA
molecules.

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1.5 The Impact of Biotechnology

Plants, Animals and Food Supply

Use of recombinant technology to modify crop plants.
Genes such as resistance to herbicides, insects and
genes for nutritional enhancement.
The transfer of heritable traits across species using
recombinant DNA technology creates transgenic
organisms.

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1.4 Development of Recombinant DNA
Technology
Plants, Animals and Food Supply
In 1996, Dolly the sheep was
cloned by nuclear transfer

Dolly was the first mammal to be

cloned from an adult cell.

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1.5 Genetic Studies Rely on the Use of
Model Organisms
Geneticists gradually came to focus attention on a small
number of organisms, including the fruit fly (Drosophila
melanogaster) and the mouse (Mus musculus)

But, can we just use any other animal for

studies concerning genetics and
biotechnology?

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1.5 Genetic Studies Rely on the Use of
Model Organisms
These animals are suitable for genetic research
Easy to grow
Short life cycles
Produced many offspring
Ethical considerations

Model genetic organisms - defined as an organisms used for

the study of basic biological processes.

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1.5 Genetic Studies Rely on the Use of
Model Organisms
Other model organisms used to study human
diseases:

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1.5 Discussion Recap!

What is the structure of DNA? How does it differ from that of

the RNA?

Q1
1.5 Discussion Recap!

What is the structure of DNA? How does it differ from that of

the RNA?
Differentiate gene from alleles

Q2
1.5 Discussion Recap!

What is the structure of DNA? How does it differ from that of

the RNA?
Differentiate gene from alleles
If you knew that a devastating late-onset inherited disease
runs in your family (in other words, a disease that does not
appear until later in life) and you could be tested for it at the
age of 20, would you want to know whether you are a
carrier? Would your answer be likely to change when you
reach age 40?

Q3
1.5 Discussion Recap!

What is the structure of DNA? How does it differ from that of

the RNA?
Differentiate gene from alleles
If you knew that a devastating late-onset inherited disease
runs in your family (in other words, a disease that does not
appear until later in life) and you could be tested for it at the
age of 20, would you want to know whether you are a
carrier? Would your answer be likely to change when you
reach age 40?
Describe the central dogma of molecular genetics and how
it serves as the basis of modern genetics.
Q4
Thank you! Introduction to Genetics

L E C T U R E C O N C E P T S

Genetics has a rich and interesting history

Genetics progressed from Mendel to DNA in
less than a century
Molecular genetics - discovery of double
helix
Development of Recombinant DNA
technology
Study of genetics and model organisms

PowerPoint & Lecture: Adrian Lui Dasigo