Introduction to

Genetics

the branch of biology concerned

with the study of heredity and
variation
Chapter 1
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History of Genetics
16001850: The Dawn of Modern Biology
William Harvey: Theory of epigenesis
Structures such as body organs

are not initially present in the early embryo

are formed later

1830: Schleiden and Schwann: The cell theory

All organisms are composed of basic
structural
units called cells
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The Origin of Species

1859: Darwin published his ideas on the
theory of evolution in The Origin of Species
Descent with modification

Existing species arose from other ancestral species

Natural selection

The mechanism for evolutionary change

Theory of evolution

Independently proposed by Alfred Russel Wallace

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 1866: Mendel publishes his findings

Mendel worked with peas and used
quantitative data to support his ideas

Traits are passed from generation to

generation
Transmission of genetic information from
parents to offspring

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Mitosis and Meiosis

Mitosis

Chromosomes are copied and distributed

The two resulting daughter cells each receive a
diploid set

Meiosis

Chromosomes are copied and distributed

Resulting cells (gametes) receive a haploid set
of chromosomes

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Chromosomal Theory
of Inheritance
Inherited traits are controlled by genes
residing on chromosomes
Genes are transmitted through gametes
Maintains genetic continuity from generation to
generation

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Genetic Variation
Alleles

Mutations produce alleles of a gene

The source of genetic variation

Genotype

The set of alleles for a given trait

Phenotype

Expression of the genotype

Produces an observable trait or phenotype

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DNA Is the Carrier of

Genetic Information
DNA is the carrier of genetic information
Not protein
Research of Avery, MacLeod, and McCarty

In 1944, published experiments showing DNA was

carrier of genetic information in bacteria

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 2015 Pearson
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Figure 1-7

Structure of DNA
DNA is

antiparallel
double-stranded helix
made of nucleotides

Monomer is

nucleotide consisting of a sugar (deoxyribose)

bonded to a phosphate
also bonded to the bases adenine, cytosine, guanine,
and thymine

Nucleotides form AT and GC

complementary base pairing across the helix

Figure 1-7

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Structure of RNA
RNA is similar to DNA, except that

it is usually single-stranded
it has uracil (U) in place of thymine (T)
the sugar in RNA nucleotides is ribose instead of
deoxyribose

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The Central Dogma

of Molecular
Genetics
DNA is transcribed to
RNA
RNA is translated into
protein

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The Genetic Code

Codons

Triplet nucleotides present in mRNA

The genetic code

Each triplet encodes for insertion of a

specific amino acid into a growing protein
chain

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Proteins
Proteins are the end product of gene
expression
Protein action or location in a cell produces
phenotype(s)
Diversity of proteins

20 different amino acids

Numerous combinations of these 20

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Recombinant DNA Technology

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Restriction Enzymes
1970s: researchers discovered that
restriction enzymes in bacteria cut viral
DNA at specific sites
Restriction enzymes allowed the advent of
recombinant DNA and cloning

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 2015 Pearson
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Figure 1-11

Biotechnology
Biotechnology is now used in

health care
supermarket products
agriculture
court system

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Biotechnology Used in
Agriculture
Biotechnology has been used for the genetic
modification of crop plants for
increased herbicide, insect, and viral resistance
nutritional enhancement
water use reduction

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Biotechnology in Genetics
and Medicine
Biotechnology-derived genetic testing
Utilized in prenatal diagnosis
Tests for heritable disorders

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 2015 Pearson
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Figure 1-12

Genomics, Proteomics, and

Bioinformatics
Genomics

Studies the structure, function, and evolution of

genes and genomes

Proteomics

Identifies a set of proteins present in cells

under a given set of conditions
Studies their functions and interactions

Bioinformatics

Uses hardware and software for processing

nucleotide and protein data

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Common Origin
All life has a common origin
Genes with similar functions in different
organisms are similar in structure and in
DNA sequence

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Modern Approaches to
Understanding Gene Function
Reverse genetics

DNA sequence of a particular gene of interest

(GOI) is known, but its function is not

Gene knockout

Allows scientists to render genes nonfunctional

to investigate the possible role of that gene

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Model Organisms Used to

Study Human Diseases
Model organisms for genetic study meet
these criteria:

Easy to grow
Short life cycle
Produce many offspring
Genetic analysis is straightforward

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Table 1.1

Model Organism: Historical

and Modern
First generation of model organisms:

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Figure 1-13

Model Organism: Historical

and Modern
Modern model organisms:

Viruses: T phages and lambda phages

Bacteria: Escherichia coli
Yeast: Saccharomyces cerevisiae

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 2015 Pearson
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Figure 1.13

The Age of Genetics

1865: Mendel set the stage for the study of
genetics
Genetics rapidly developed from Mendels
peas to the Human Genome Project
1962: Nobel Prize awarded to Watson, Crick,
and Wilkins
Numerous Nobel Prizes have been awarded since
then in the field of genetics

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Future of Genetics
Society is faced with a host of sensitive
genetics-related issues:
Prenatal testing
Ownership of genes
Access to/safety of gene therapy

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