Genetics Genotype
o Genetic make-up
Gregor Johann Mendel
• Father of Genetics
• An Austrian monk who discovered the basics
principles of heredity through experiments in his
garden
• Mendel’s observations became the foundation of
modern genetics and the study of heredity, and
he is widely considered a pioneer in the field of
genetics
• Pisum Sativum (Garden Pea plant)
Monohybrid Cross
• A cross involving a single trait
o Ex: Height – tall or short or Color of fur
– Brown of Black
Alleles
o One of two or more versions o a gene.
o An individual inherits two alleles for each
gene, one from each parent.
o If two alleles are the same, the individual
is homozygous for that gene.
o If the alleles are different, the individual
is heterozygous
o Example:
▪ For height tall (T) short (t)
Parental Generation
o A cross of purebred (homozygous)
parents
F1 (First Filial Generation)
o The product of the parental generation.
F2 (Second Filial Generation)
o The products of the self-fertilization of
the products of F1 generation.
Homozygous
o The same alleles
o Ex: LL or ll
Heterozygous
o Different alleles
o Ex: Ll
o Ex:
▪ Homozygous long
▪ Heterozygous Long
Phenotype
o Physical make-up
o Ex:
▪ Long or Short
Mendelian Principles
1. The Principle of Dominance and Recessiveness
2. The Law of Segregation
3. The Law of Independent Assortment
The Principle of Dominance and Recessiveness
• “One factor in a pair may mask the expression
of the other”
• Dominant allele - expressed trait
• Recessive allele – masked trait that reappears in
the F2 generation
The Law of Segregation
• “A gene pair carries two separate characteristics”
• The egg and sperm cell carry the hereditary
factors that the offspring receives one factor
from each parent
Dihybrid Cross
o A cross involving two traits
o Ex: height – tall (T) or short (t) and
Color of hair – Black (B) or Blond (b)
The Law of Independent Assortment
• “During gamete formation, the gene pairs assorts
independently”
• The inheritance of one trait is not affected by the
inheritance of another trait
 Non-Mendelian Patterns of Inheritance o I^O
1. Incomplete Dominance
2. Codominance
3. Multiple Alleles (Blood types)

Incomplete Dominance
• “The pattern of inheritance, where an
intermediate phenotype other than the two
parental phenotypes, is observed”
• The dominant allele failed to cover or hide the
recessive allele
• The offspring does not resemble either of the
parents
• No allele is completely dominant over the other Rhesus (Rh) factor
o An inherited protein found on the
surface of red blood cells
o If your blood has the protein (Rh
positive)
o If your blood lacks the protein (Rh
negative)
o Rh Positive is the most common blood
type
o Having an Rh negative blood type is not
Codominance
an illness and usually does not affect
• Both alleles are expressed resulting in the
your health however it can affect your
formation of the phenotype or characteristics
pregnancy.
• The third phenotype is not a blending of the
parental traits; rather, both parental traits are
The Genetic Material: DNA
displayed
Gene
• An important segment of deoxyribonucleic acid
(DNA) that signifies a unique protein that
controls a specific function in the cell
• Is capable of storing genetic information and
sometimes can undergo mutation
Dna
• Blueprint of heredity
• First isolated from pus cells by Friedrich Miescher
Multiple Alleles in 1869
• Three common alleles of Human Blood Group:
o I^A
o I^B
 Mendelian Inheritance • Examples:
1. Sex-Linked o Hemophilia A
2. Y-Linked ▪ Also called factor VIII (FVIII)
3. X-Linked deficiency or classic hemophilia,
is a genetic disorder caused by
Sex Chromosomes missing or defective factor VIII,
a clotting protein.
▪ Although it is passed down
from parents to the children,
about 1/3 of cases are caused by
a spontaneous mutation, a
change in gene.
o Color Blindness
X-Linked Dominant ▪ Is not a form of blindness at all,
• Disorders are caused by mutations in genes on but a deficiency in the way you
the X chromosome, one of the two sex see color.
chromosomes in each cell ▪ With this vision problem, you
• In females (XX), a mutation in one of the two have difficulty distinguishing
copies of the gene in each cell is sufficient to certain colors, such as blue and
cause the disorder. yellow or red and green.
• In males (XY), a mutation in the only copy of the Y-Linked Inheritance
gene in each cell causes the disorder • Y-Linked traits never occur in females, and occur
• In most cases, males experience more severe in all male descendants of an affected male
symptoms of the disorder than females. • The concepts of dominant and recessive do not
• A characteristic of X-Linked inheritance is that apply to Y-linked traits, as only one allele (on the
fathers cannot pass X-Linked traits to their sons Y) is ever present in any one (male) individual
(no male-to-male transmission) • Males with a single Y- or X-linked allele are
• Example: described as hemizygotes, because only one allele
o Fragile X syndrome: is present
▪ A genetic condition that causes a
range of developmental
problems including learning
disabilities and cognitive
impairment
X-Linked Recessive
• A female parent possessing one X-Linked
recessive mutation is considered a carrier
• This means that they will not manifest clinical
symptoms of the disorder but will pass on the
trait to the next generation
• All males possessing an X-Linked recessive
mutation will be affected
 Pedigree Chart • The sizes and location of the bands are very
• This can help trace the phenotypes and genotypes consistent for each chromosome, but the bands
in a family to determine in whether people carry differ greatly among different chromosomes
recessive alleles • Therefore, different chromosomes can be easily
• Parts: identified in a karyotype
• Show changes in chromosomes such as when a
person has too many or lacking chromosomes
• Reveals the loss part of a chromosome or
deletion
• Used to estimate distances between genes on a
chromosome
• Can help show the possible location of a gene
on a chromosome

Deletion – Turner’s Syndrome

• Lacking one X chromosome on 23rd pair (sex
chromosomes)
• Is a chromosomal condition that alters
development in females
• Women with this condition tend to be shorter
than average and are unable to conceive a child
(infertile) because of an absence of ovarian
function.

Addition – Down Syndrome

• Extra chromosome on 21st pair
• Also known as trisomy 21, is a genetic
disorder caused by the presence of a all or part
of a third copy of chromosome 21.
• It is typically associated with physical growth
delays, characteristic facial features and mild to
moderate intellectual disability

Karyotype
• A picture of all chromosomes in a cell
• Chemicals are used to stain chromosomes to
produce a pattern of bands on them
 Human DNA • Nucleotide is the building block made up of:
• Consists of 3 billion bases, and more that 99 o Four bases
percent of those bases are the same in all people. o Five-carbon sugar deoxyribose
o Phosphate group
• The genetic material that contains all the genetic
information.
• Responsible in controlling all cellular activities
within living organisms.

• Can be found in:

o Mitochondria (mtDNA)

• The order or sequence of the bases determines

the information available for building and
maintaining an organism
o Nucleus (Nuclear DNA • The complementary base pairing:
o A to T
o C to G

Watson and Crick

Watson and Crick Model
• In 1953, developed the structure of a DNA as a
• Four DNA bases: “double helical structure” since the structure
o Adenine (A) contains two strands winding around each
Purine Bases
o Guanine (G) other.
(Double rings)
o Cytosine (C) Pyrimidine bases
o Thymine (T) (sintering)
Watson and Crick Model
• The 5’ and 3’ mean “five prime” and “three prime”,
which indicate the carbon numbers in the DNAs
sugar backbone. The 5’ carbon has a phosphate
group attached to it and the 3’ carbon a hydroxyl
(-OH) group. This asymmetry give DNA strand a
“direction”.

DNA Replication
• The 2 strands of DNA separate from one another
Protein Synthesis
when enzymes (helicase) break the hydrogen
bond between them. • Proteins inside the cell is responsible in
controlling activities of the cell.
• Produces two new complementary strands
following the rules of base pairing. Each strand
serves as a template, or model, for the new 1. Messenger RNA (mRNA)
strand o Transcribes and copies the
genetic information in making
• For example:
proteins from the DNA strand.
o A strand that has the bases TACGTT
(inside the nucleus)
produces a strand with the
2. Ribosomal RNA (rRNA)
complementary bases ARGCAA
o Reads the copied information
• Result:
from the mRNA as codon code
o 2 DNA molecules identical to each other
which contains three
and to the original strand.
consecutive nitrogenous bases
o Each DNA molecule resulting from
3. Transfer RNA (tRNA)
replication has one original strand and
o Starts to bring anticodon
one new strand.
(complementary copy of the
mRNA codon) to the ribosomes;
The Structure of RNA each anticodon contains a single
• In decoding genetic messages, a part of the type of amino acid.
nucleotide sequence will be copied from DNA to o
RNA Triplet Code
• RNA molecules then carry out the process of Codon - A three-nucleotide sequence that codes for
making proteins. amino acid.
• Consists of a long chain of nucleotides Start Codon – Signals the start of translation
Comparison Between a DNA and RNA (methionine)
DNA RNA Stop Codons – Signals the end of the amino acid chain
Sugar Deoxyribose Ribose
Bases A, T, G, C A, U, G, C Codons
Strands Double Single strand • Are read as series of three nonoverlapping
Strands nucleotides. A change in the reading frame
Helix Yes No change the resulting protein.
Translation
• Stops when all codons are converted into amino
acids and when a specific protein molecule is
produced
Francis Crick defined Central Dogma of molecular
biology, which states information flows in one direction,
from DNA to RNA to proteins.
To sum it up!!
Replication – Copies DNA
Transcription – Converts a DNA message into an
intermediate molecule, called RNA
Translation – Interprets RNA message into a string of
amino acids, called a polypeptide which composes the
protein.
Genetic Engineering
Don’t you know?
DNA evidence is used to convict a criminal, release
an innocent person from prison, or solve a
mystery.
Before:
Lines and swirls in a fingertip were
detective’s best hope for identifying someone.
Nowadays:
Investigators gather biological samples
and analyze DNA for another kind of evidence:
DNA fingerprint
DNA Fingerprint
• A representation of parts of an individual’s DNA
that can be used to identify a person at
molecular level
• A specific type of restriction map
• First: DNA is cut with a restriction enzyme. Then
the DNA fragments are run through a gel and the
pattern of bands on the gel is analyzed

DNA Fingerprint Paternity Testing
• DNA fingerprinting (with gel electrophoresis) can
be used to determine who the parents of an
organism are.
• Just like genes, DNA fragments are inherited from
both parents
Genetic Engineering
• A process in which the genes are being altered
and the DNA is transferred from one organism
to another
Transgenic Organism
• When an organism’s genes are altered for a
specific purpose
Recombinant DNA Technology
• Among the DNA-based tool that allows
scientists to find individual genes, cut, purify, and
insert into the genome of another organism.
• A molecular scissor called restriction enzymes is
used to cut DNA at specific sequences
• The cutout gene of interest s then inserted into a
circular bacterial DNA called plasmid
• The plasmid is then reintroduced into a bacterial
cell. When the bacteria multiply, the plasmids
multiply as well, creating many copies of the
gene.
• Since bacteria multiply quickly, large numbers of
the gene can be produced in the laboratory for
further analysis and application
Uses of Genetic Engineering
1. Development of gene therapy
• A genetic defect will be repaired.
Gene therapy – The introduction of
normal genes into cells in place of
missing or defective ones in order to
correct genetic disorder.
2. Enhancing an effect already natural to that
organism
• (e.g. to increase its growth rate)
3. Resistance against diseases or any other
external damages
• (e.g. crops with blight, seasonal damage
from cold or dry climate)
4. Extraction of microorganism that produces
human insulin for diabetes, or a sheep to
produce a human blood clotting protein in
her milk; in both cases, a transgenic method
5. Improvement in the ripening of fruits without
getting squashy
Cloning
❖ A method that scientists use to produce genetic
copy of another individual.
❖ In 1997, the first cloned animal is produced, a
seven-month old sheep named DOLLY
❖ On July 5. 1996, after 276 failed attempts, a team
of scientists at the Roslin institute at the
University of Edinburgh achieved something
remarkable: They managed to clone a sheep.
❖ Dolly the Sheep
o The first mammal cloned from an adult
cell
o Born on 1996
o Died on 2003
o She was 6 when she died, about half the
usual age for a sheep
❖ Dolly’s 3 mothers:
1. One mother gave Dolly her DNA
2. One mother that supplied the egg
3. One mother that gave birth to her
(surrogate mother)
❖ Dolly inherited her traits from the mother who
gave her, her DNA (adult Finn Dorset ewe)
❖ Dolly is still considered a failure as she only lived
half the lifespan of a normal sheep (12years)
❖ Dolly’s mother was 6 when she donated DNA to
Dolly -> Dolly had 6 years left to live.

Human Cloning