I.

GENETICS - trait information is passed on from generation to

generation in the form of genes

What is Genetics? Genes

- branch of biology; study of heredity and variation in - specific location on a chromosome that controls a certain
organisms trait
- transmitting of traits from one generation to another - unit of hereditary material
- it affects everything about every living thing - each chromosome contains thousands of genes made up
of DNA
Geneticist - person who studies genetics - gene codes for a particular characteristic of the organism
(eye color, blood group)
Heredity
- biological process where a parent passes certain genes Where do genes come from?
onto their offspring - An individual needs 2 genes for each trait; one gene from
- every child inherits genes from both of their biological each parent
parents and the genes in turn express specific traits - gene pair is called allele
- one gene from the sperm cell (father); one gene from the
Trait egg cell (mother)
- specific characteristic that is unique
- it affects the way we look, how our bodies function TERMINOLOGIES
- inherited (hair color, eye color, handedness)
Gametes
Variation - differences that make one organism from its parents - reproductive cells/ sex cells
- ovum/ egg cells (female gametes); sperm cells (male
Dominant trait - always expressed or shown (brown hair, brown gametes)
eyes, right-handed)
Chromosomes
Recessive trait - covered up or seems to disappear (blonde hair, - DNA is tightly coiled around proteins; packaged into
blue eyes, left-handed) structures
- found in the nucleus of the cell
Where do traits come from?
- factors that make up an individual come from both parents Phenotype
- outward appearance/ characteristics of the organism
depending upon genes
Genotype Punnett Square - a way to show the possible combinations of
- set of genes in our DNA; responsible for phenotype genes that offspring of parents could have
- genetic make up for a trait
- homozygous brown; BB = pure brown (both genes are the
same)

How are Genes Expressed?

- traits are how our genes show
- traits are formed from 2 genes; described by the
combination of genes that make the pair
- homogeneous (pure); heterogeneous (mixed)

GENE REPRESENTATION
How do we write our genetics?
● Name of the dominant - determines what letter is used to Deoxyribonucleic Acid
represent the gene - “instruction code”
● Dominant gene - capital of the first letter of the dominant - long threads of material found in all cells
trait - “master code”, instructs all cells in their daily jobs
● Recessive gene - small version of the first letter of the - genes are short pieces of DNA that make up our
dominant trait chromosomes
- each piece of DNA that is related to a gene makes up one
HOMOZYGOUS AND HETEROZYGOUS trait

Homozygous = Pure (Homogeneous) How do we look the way we do?

- parents pass on copies of their DNA to their offspring
● Pure dominant - only has genes for the dominant trait - DNA from each parent combines to form the DNA of the
offspring
● Pure Recessive - only has genes for the recessive trait - Offspring develops depending on the instructions coded in
the DNA donated by both parents
Heterozygous = Mixed (Heterogeneous) - offspring are similar to parents; different due to many
- one dominant gene and one recessive gene for a trait possible combinations of the bases
- dominant gene is the one expressed - every individual is unique
 Foundation of Genetics
Mitosis - an Augustinian friar carried out remarkable experiments
- process of cell duplication using garden pea plants
- one cell divides into 2 genetically identical daughter cells Gregor Johan Mendel
- cell’s chromosomes are copied then distributed equally - “Father of Genetics”
between the 2 nuclei of the daughter cells - used Pisum Sativum (green pea plant) in this study;
1856-1863
Meiosis - 7 characteristics in his study
- reduces the number of chromosomes in the parent cell by - Law: Mendelian Laws of Inheritance (Law of
half and produces 4 gamete cells Segregation and Independent Assortment)
- required to produce egg and sperm cells for sexual
reproduction - able to calculate probabilities of having a specific trait or
- Begins with parent cell (diploid); has to copies of each getting a genetic disease depending on the information
chromosome from parents and family history
- the inheritance of certain traits in pea plants follows
particular patterns, becoming the foundation of modern
genetics and leading to the study of heredity

Mendel’s Law of Heredity

1) The Law of Segregation
- each inherited trait is defined by a gene pair
- parental genes are randomly separated to the sex
cells
- offspring inherit one genetic allele from each parent
when sex cells unite in fertilization
2) The Law of Independent Assortment
- genes for different traits are sorted separately from
one another so the inheritance of one trait is not
dependent on the inheritance of another
3) The Law of Dominance
- an organism with alternate forms of a gene will
express the form that is dominant
Four Major Subdivisions of Genetics - Breast cancers (BRCA1 or BRCA2 mutation)
1) Classical or Mendelian Genetics - Colon cancer (mutation in the MLH1, MSH2 or MSH6
- describes how physical traits are passed from one genes)
generation to the next - Hemophilia
2) Molecular Genetics - Tay Sachs disease
- the study of the chemical and physical structures of - Sickle cell anemia
DNA, RNA and proteins - Thalassemia (red blood cell diseases)
- also discuss how genes work - Huntington’s disease
3) Population Genetics - Fragile X syndrome
- looks at the genetic makeup of larger groups
- genetic variation within and among populations and Advances in Genetics
the evolutionary factors - identify various genetic traits that predispose people to
4) Quantitative Genetics more widespread health problems
- examines the statistical relationships between - increased understanding of certain diseases that are
genes and traits they encode inherited
- increased knowledge of many health conditions
Modern Applications of Genetics (treatment, prevention and cure)
- help to predict looks of offspring
- predicting, understanding disorders and risks of diseases Certain Treatments
- identify individuals and families at risk for genetic disease 1) Gene Therapy
continues to increase, capacity of health care system to - experimental technique that uses genes to treat or
inform about the appropriate application of genetic tests prevent disease
- help you understand your own health and make healthy - inserting a gene into patient’s cells instead of using
choices drugs or surgery
- diagnosing disorders - replacing a mutated gene which causes disease
- diagnosing genetic disorders before birth with a healthy copy of the gene
- treating diseases - inactivating a mutated gene that is functioning
improperly
Genetic Diseases - introducing new gene into the body to help fight a
- Cystic fibrosis (mucoviscidosis) disease
- Hemochromatosis (excess iron in the body) - still under study and currently being tested only for
- Trisomy 21 (Down syndrome) diseases that have no cures
- Myopathies (genetic diseases on muscles); Duchenne
muscular dystrophy/ Steinert’s disease
 II. THE CENTRAL DOGMA
Nucleotide:
1) Phosphate group
2) 5-carbon sugar
3) Nitrogenous base

DNA Nucleotide

“DNA makes RNA makes PROTEIN”

A. DNA Structure

Discovery of DNA double helix

- late 1860’s
Friedrich Miescher – first to identify DNA
Rosalind Franklin – X-ray photo of DNA
Watson and Crick – described the DNA molecule from
Franklin’s X-ray

Deoxyribonucleic Acid (DNA)

- hereditary material in humans and almost all other
organisms
- made up of nucleotides (DNA molecule) in a DNA
double helix
 Phosphate Group
Nitrogenous Bases - Phosphorus atom is the central atom
Purines - Adenosine Triphosphate (ATP), energy molecule
1) Adenine (A) that stores and transfers energy between reactions
2) Guanine (G) - Unlike ATP, the bonds are known as
phosphodiester bonds between phosphate groups
Pyrimidines and sugar molecules
3) Thymine (T)
4) Cytosine (C) B. DNA Replication

Adenine - semiconservative
- must pair with Thymine - 2 DNA strands are antiparallel
Guanine - DNA has complementary base pairing
- must pair with Cytosine - H-bonds hold nucleotides together

Where DNA Replication takes place?

Synthesis Phase (S phase)
- S phase in interphase of the cell cycle
Origins of Replication
1) Replication bubbles
5-carbon Sugar - hundreds of replicating bubbles (eukaryotes)
- single replication fork (bacteria)
- regardless of the nucleotide, the sugar is always
the same - unwound and open region of DNA where DNA
replication occurs
- difference is between DNA (deoxyribose) and RNA
2) Replication forks
(ribose)
- region where a cell's DNA double helix has been
unwound and separated to create an area
- where DNA polymerases and the other enzymes
involved can use each strand as a template to
synthesize a new double helix

Strand Separation
1) Helicase
 - enzyme that unwinds and separates the parent 1. DNA Polymerase I - removes RNA primer and
DNA and forms the replication fork replaces it with DNA after the replication is almost
done
2) Single-Strand Binding Proteins 2. Okazaki Fragments - series of short fragments
- proteins that attach, stabilize and keep the strands in the lagging strand
apart 3. DNA Ligase – linking enzyme that forms
3) Topoisomerase covalent bonds from 3’ to 5’ end of joining strands
- enzyme prevents the DNA double helix ahead of - Joins the Okazaki strands together
the replication fork from getting too tightly wound as
the DNA is opened up Proofreading
- the enzyme which relieves stress on the DNA - initial base-pairing errors are usually corrected by
molecule by allowing free rotation to the single DNA Polymerase
strand DNA Repair
• Excision repair
Priming - Damaged segment is excised by a repair
1) RNA primers enzyme (there are over 50 repair enzymes)
- before the DNA strands form, there must be small pre- - DNA polymerase and DNA ligase replace
existing primers (RNA) present to start the addition of and bond the new nucleotides together
new nucleotides (DNA Polymerase)
2) Primase C. RNA Structure
- enzyme that polymerizes (synthesizes) the RNA
Primer DNA VS RNA

Synthesis of the New DNA Strands

DNA Polymerase III
- with a RNA primer in place, DNA Polymerase
(enzyme) catalyze the synthesis of a new DNA strand
in the 5’ to 3’ direction
a. The Leading Strand – single DNA strand that,
during DNA replication, is replicated in the 3’ – 5’
direction
b. The Lagging Strand - strand in DNA replication
that is synthesized discontinuously, to generate
Okazaki fragments
 RNA Structure - three types of RNA are involved in protein
- single-stranded synthesis
- sugar molecules in RNA are ribose sugars - Performed by enzymes called RNA polymerases
- base thymine is not found in RNA - has three stages: initiation, elongation, and
- nitrogen base called uracil is found in its place termination

3 Types of RNA
1. Messenger RNA (mRNA) - copies the message
from DNA and brings it to the ribosomes located in
the cytoplasm
2. Ribosomal RNA (rRNA) - component of the
ribosomes
3. Transfer RNA (tRNA) - picks up and carries the
specific amino acids to the mRNA at the ribosomes

The Flow of Information

Stages of 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.
(1960) - Alexander Rich discovered that an RNA molecule and a 2) Elongation - One strand of DNA, the template
DNA molecule could form a hybrid double helix that results in strand, acts as a template for RNA polymerase.
having the first experimental demonstration of a way in which As it "reads" this template one base at a time,
information could be transferred from DNA to RNA the polymerase builds an RNA molecule out of
complementary nucleotides, making a chain
Transcription that grows from 5' to 3'.
- RNA is synthesized via process called transcription 3) Termination - Sequences called terminators
- first step in gene expression signal that the RNA transcript is complete.
- involves copying a gene's DNA sequence to make Once they are transcribed, they cause the
an RNA molecule transcript to be released from the RNA
polymerase.
 Eukaryotic RNA modifications The cracking of the genetic code began in 1961, with work from
- Eukaryotic pre-mRNAs must have their ends the American biochemist Marshall Nirenberg and his colleagues.
modified, by addition of a 5' cap (at the beginning) Their success relied on two experimental innovations:
and 3' poly-A tail (at the end). • A way to make artificial mRNA molecules with specific,
- Many eukaryotic pre-mRNAs undergo splicing. In known sequences.
this process, parts of the pre-mRNA (called introns) • A system to translate mRNAs into polypeptides outside of
are chopped out, and the remaining pieces (called a cell (a "cell-free" system).
exons) are stuck back together.
Codons
- most codons specify an amino acid
- three "stop" codons mark the end of a protein
- One "start" codon, AUG, marks the beginning of a
protein and also encodes the amino acid
methionine

Location of Transcription
- (Eukaryotic) takes place in the nucleus, where the
DNA is stored, while protein synthesis takes place
in the cytosol
- (Prokaryotic) don't have a nucleus, so they carry The Genetic Code Table
out both transcription and translation in the cytosol

THE GENETIC CODE

- In the mid-1950s, physicist George Gamow
extended this line of thinking to predict that the
genetic code was likely composed of triplets of
nucleotides.
Protein Synthesis (Translation) Protein Targeting, Folding, and Modification
- decoding by a ribosome of an mRNA message into 1) removal of translated signal sequences—short
a polypeptide product tails of amino acids that aid in directing a protein
- a protein is synthesized from the information to a specific cellular compartment
contained in a molecule of messenger RNA 2) proper “folding” of the polypeptide and
(mRNA) association of multiple polypeptide subunits,
The Protein Synthesis Machinery often facilitated by chaperone proteins, into a
Ribosome - factory for the synthesis of proteins distinct three-dimensional structure
- has a small and a large subunit and is a 3) proteolytic processing of an inactive polypeptide
complex molecule composed of several to release an active protein component
ribosomal RNA molecules and a number 4) various chemical modifications (e.g.,
of proteins phosphorylation, methylation, or glycosylation)
of individual amino acids
Transfer RNAs - structural RNA molecules and
depending on the species III. GENETIC MUTATIONS
- interacts with three factors:
aminoacyl tRNA synthetases,
• changes in the genetic sequence
ribosomes and mRNA
• main cause of diversity among organisms
• changes occur at many different levels, and they
How Translation Occurs?
can have widely differing consequences
- After mRNA leaves the nucleus, it moves to a
ribosome, which consists of rRNA and proteins.
How mutation affects an organism's descendants?
- The ribosome reads the sequence of codons in
1) occur in cells that produce the next generation
mRNA, and molecules of tRNA bring amino acids
2) affect the hereditary material
to the ribosome in the correct sequence.
What if mutations occur in non-germline cells?
The Mechanism of Protein Synthesis
- these changes can be categorized as somatic mutations
Initiation - begins with the formation of an initiation
- word somatic comes from the Greek word soma which
complex
means "body", and somatic mutations only affect the
Elongation - in prokaryotes and eukaryotes, the
present organism's body
basic elongation of translation is the same
Termination - occurs when a nonsense codon
(UAA, UAG or UGA) is encountered for which there
is no complementary tRNA
Types of Mutations Insert or Deletion
Missense mutations - changes the number of DNA bases in a gene
- change in one DNA base pair that results in by adding a piece of DNA. A deletion
the substitution of one amino acid for removes a piece of DNA
another in the protein made by a gene

INSERTION

Nonsense mutations
- a change in one DNA base pair

DELETION

Duplication
- consists of a piece of DNA that is abnormally
Silent mutation copied one or more times
- some mutations that change DNA bases do - alter the function of the resulting protein
not have any effect on the sequence of
amino acids in the protein Consequences of Mutations
- they do not affect the structure or function of 1) Genetic Disorder
the protein because there is no effect on the - deceased caused by a mutation in one or
amino acid sequence a few genes
- human example is cystic fibrosis
2) Cancer
- disease in which cells grow out of control
and form abnormal masses of cells
- generally caused by mutations in genes
that regulate the cell cycle
 Beneficial Mutations Inbreeding
1) Mutations in many bacteria that allow them to - mating between closely related individuals--
survive in the presence of antibiotic drugs. The develops pure blood lines
mutations lead to antibiotic - resistant strains of - ensure offspring are homozygous for traits
bacteria. Disadvantage: brings out harmful recessive traits
2) A unique mutation is found in people in a small
town in Italy. The mutation protects them from What is a Hybrid?
developing atherosclerosis, which is a - offspring of parents with different forms of a trait
dangerous buildup of fatty materials in blood - crossing a disease resistant plant with one that
vessels. produces a lot of yield = a plant that is disease
resistant and productive
IV. APPLIED GENETICS - wheat, corn, rice and garden vegetables

What is Applied Genetics? How do we determine Genotypes?

- (manipulation) of the hereditary characteristics of • Perform test crosses: cross an individual of known
an organism to improve or create specific traits in genotype with one of unknown genotype and
offspring observe offspring.
- Applying theoretical concepts of genetics to • known genotype is always the recessive
practical areas. For example, plants, animals and
medicine. Example of a Test Cross

What is Breed? D D D d
- selective group of organisms within a species that
have been bred for particular characteristics
- German shepherds
- Boxers
- Klydesdale Horses
d d
d
- Himalayan Cats

Selective Breeding
d
- produces organisms with desired traits
- large heads of grain, juicy berries, disease
resistant plants, calves, that produce the most milk
Genetic Engineering Types of Vectors
- a faster and more reliable method for increasing - Vectors transport foreign DNA to a host
the frequently of a specific allele in a population - Biological vectors are viruses and plasmids (small
- involves cutting (or cleaving) DNA from 1 organism rings of DNA found in bacteria cells)
into fragments and inserting fragments into a host - Mechanical vectors: micropipette or small metal
organism bullets
-
Recombinant DNA Why is cloning possible?
- made by connecting or recombining fragments of - foreign pieces of DNA introduced into the host cell
DNA from different organisms has been so completely, the foreign DNA is
- Transgenic Organisms: contain foreign DNA (or replicated as if it were the host’s DNA
recombinant DNA) - advantage to using bacteria in cloning is it
replicates quickly
How to Produce a Transgenic Organism - Cloning Animals: to produce healthy, productive
1) isolate the foreign DNA fragment and cleave the DNA animals that increase yield
with restriction enzymes
2) attach the fragment to a vehicle called vector so it can Sequencing DNA
be transported into the host cell Once pure DNA has been cloned then the sequence of
3) transfer the vector to the host and reconnect the vector DNA can be determined by:
with the host DNA by gene splicing (rejoining DNA) - separating the strands
4) after the DNA is transferred now it can replicate every - the single strands are mixed with enzymes,
time the host DNA replicates making clones (identical radioactive nucleotides and dyes
copies) of the recombinant DNA - mixture produces complementary strands of
varying lengths
Restriction Enzymes - separated according to size by gel electrophoresis,
- used to cleave DNA at certain sites producing a pattern of dyed bans which can be
- ECORI cleaves at 5’GAATTC3’ read with a X-ray
- BAMHI cleaves at 5’GGATCC3’
- HINDIII cleaves at 5’AAGCTT3’ The process of Gel Electrophoresis
- If DNA is cut straight through both strands you - Restriction enzymes either one or several
have blunt ends. Ex. 5’TTAT3’ 5’AATA3’ restriction enzymes is added to a DNA sample. The
- IF DNA is cut stageredly the ends are said to be enzymes cut the DNA into fragments.
“sticky”. 5’GATCCGAGGA3’ 5’TCCTAGGC3’
 - The gel: a gel similar to gelatin, is formed so that Loading of Gels
small wells are left at one end. Into the wells, small
amounts of the DNA sample are placed.
- The electrical field: the gel is placed in a solution,
and an electrical field is set up so that one end of
the gel is positive and the other is negative.
- The fragments Move: the negatively charged DNA
fragments travel toward the positive end. The
smaller fragments, the faster it moves through the
gel.
- Fragments that are the farthest from well are the
smallest. Recombinant Bacteria in Industry
- bacteria that are able to break down pollutants into
Gel Electrophorosis Equipment harmless substances
- oil Degrading bacteria
Recombinant Bacteria in Medicine
- produce insulin
- produce human growth hormone
Recombinant Bacteria in Agriculture
- bacteria that helps prevent frost damage
- bacteria in soil that converts atmospheric nitrogen
into nitrates faster so the plants can receive it faster

Xray of a Gel cut with Restriction Enzymes Transgenic animals

• mouse, worms, drosphilia
• create animals with human disease to help search
for cures
Transgenic plants
• herbicide resistant
• produce internal pesticides
• increase protein production
The Human Genome Uses of DNA Fingerprinting
- approximately 80,000 genes on 46 chromosomes
- 3 billion base pairs of DNA

Linkage Maps
- genetic map that shows the location of genes on
chromosomes
- genes that cross over frequently must be farther
apart than genes that rarely cross over

Uses of the Human Genome

- diagnosis of genetic disorders
- Gene therapy; the insertion of normal genes into Paternity Testing
human cells to correct genetic disorders. (Used
with CF patients)
- DNA fingerprinting

DNA Fingerprinting
- Small DNA samples can be obtained from blood,
hair, skin, or semen and copied millions of times
using a technique called PCR (polymerase chain
reaction)
- The individuals DNA is cleaved with restriction
enzymes and run through gel electrophoresis. Twin’s DNA
- DNA fragments that separate in the gel can be
compared with another sample to see if there is a
match
- DNA is very distinct like a fingerprint
- No two individuals have the same DNA except
identical twins
- in looking a child’s DNA half of the bands will match
the mother and the other half will match the father
V. APPLICATIONS Other plant breeding methods
The manipulation of plant species in order to create
Importance of Genetic Engineering desired varieties. It has been practiced for many years
✓ Tackling and Defeating Diseases and still developed to ensure food security.
✓ Getting Rid of All Illnesses in Young and Unborn • Plant breeding
Children • Embryo culture technique
✓ Potential to Live Longer • Synthetic seed engineering
✓ Produce New Foods • Gene splicing technique
✓ Organisms Can be ‘Tailor-Made’
✓ Faster Growth in Animals and Plants Genetic Improvement on Humans
✓ Pest and Disease Resistance - the Mendelian laws also applies to humans
✓ It follows the same scientific principles that have - researchers theorized that men may be able to
been practiced for generations discover the secret of life, the cure of hereditary
diseases and possibly produce a race with superior
Selection qualities through genetic engineering
- choosing parents with desirable genes and - moral and ethical issues are involved in
rejecting parents with undesirable genes manipulating genes to clone human beings

Luther Burbank (1849-1926) Mutation

- world’s foremost selective breeder - process is like selective breeding
- produced more than 250 varieties of fruits - used to produce new kinds of organisms

Inbreeding Restriction enzymes

- mating closely related to individuals - genes can be cut at specific DNA sequences by
- produces such breeds as German shepherds, Toy proteins
poodles and Great danes - surrounds the DNA molecule at the point it seeks

Hybridizing or crossbreeding DNA insertion

- parents with different traits are crossed - DNA fragments containing the desired gene are
- can also be performed in plants obtained and inserted into the DNA that has been
removed from the recipient cell
DNA sequencing
- indispensable for studying biological processes as
well as in diagnostic forensic studies

Modern DNA sequencing

- has been used in large scale sequencing of the
human genome
- has generated the complete, sequencing of many
animals, plants and microbial genomes

Genetic engineering on plants

- DNA can be injected directly into the cells or
attached the plasmids or certain species of
bacteria that infect plant cells

Genetic engineering on animals

- produced a variety of transgenic insects,
roundworms and vertebrates

Genetic engineering on humans

- when the gene used to code for a human protein is
properly inserted into bacteria, the recombinant
cells can be used to produce large amount of
proteins

DNA fingerprint
- used in criminal investigations
- DNA samples matches up a suspect with samples
of DNA containing material left at the scene of the
crime