Basic Principles of Genetics o This resulted in the creation of 3
purple flowers and 1 white flowers
Mendelian Genetics and Inheritance Pattern
as the second generation (F2)
o Mendel noticed in the first
GENETICS generation, all of the white flowers
The branch of biology that deals with the study of seemed to disappear.
genetic variation, genes, and heredity o He called this a recessive trait.
o The white color faded into the
HERIDITY background first. However, it
is the passing of genetic information and traits showed up in the next generation
(such as eye color and an increased chance of when he pollinated the flowers.
getting a certain disease) from parents to o Purple that seemed to mask over
offspring. the recessive color was named the
dominant trait
➢ DIHYBRID CROSS
MENDELIAN GENETICS
o In a dihybrid cross experiment,
➢ Austrian monk Mendel considered two traits, each
➢ Studied the inheritance of having two alleles. He crossed
traits in pea plants. wrinkled-green seed and round-
➢ Developed the Laws of yellow seeds and observed that all
Inheritance the first-generation progeny (F1
➢ Between 1856 and 1863, progeny) were round-yellow. This
he cultivated and tested meant that dominant traits were
thousands of pea plants the round shape and yellow color.
➢ He found that the plants’ o He then self-pollinated the F1
offspring retained traits of progeny and obtained 4 different
the parents traits: round-yellow, round-green,
wrinkled-yellow, and wrinkled
MENDEL’S EXPERIMENTS
green seeds in the ratio 9:3:3:1.
➢ Mendel tested seven o After conducting research for other
(7) traits of the pea traits, the results were found to be
plants, which are the similar. From this experiment,
following: Mendel formulated his second law
o Flower Color of inheritance i.e. law of
o Seed Shape Independent Assortment.
o Seed Color
o Pod Color
o Pod Shape
o Flower Position
o Stem Length
➢ MONOHYBRID CROSS
o Mendel crossed pea flowers that
were true breeding for each
characteristic.
o He crossed purple (AA) flowered
plant with a white (aa) flowered
plant.
o first generation (F1) of plants all MENDEL’S LAW OF INHERITANCE
had purple 1. LAW OF DOMINANCE This is also
flowers. called Mendel’s
o Mendel first law of
then took inheritance.
two of his According to the
first law of
generation dominance,
(F1 x F1) hybrid offspring
purpled will only inherit
flower the dominant
plants and crossed them together trait in the
(Aa x Aa). phenotype. The alleles that are
suppressed are called the recessive
traits while the alleles that determine 5 MODES OF INHERITANCE FOR SINGLE GENE
the trait are known as the dominant DISEASES
traits.
1. Autosomal Dominant - Is a way a genetic
trait or condition can be passed down from
2. LAW OF INDEPENDENT
parent to child. (occurs in every
ASSORTMENT Also known as
generation).
Mendel’s second law of inheritance,
ex. Huntington’s disease,
the law of independent assortment
neurofibromatosis, achondroplasia,
states that a pair of traits segregates
familial hypercholesterolemia
independently of another pair during
2. Autosomal Recessive - One of several
gamete
ways that a genetic trait, disorder or
formation. As
disease can be passed down through
the individual
families.
heredity factors
ex. Tay-sachs disease, sickle cell anemia,
assort
cystic fibrosis, phenylketonuria (PKU)
independently,
3. X-Linked Dominant - refers to genetic
different traits
conditions associated with mutations in
get equal
genes on the X chromosome. (can affect
opportunity to
males and females in same generation).
occur together.
ex. Hypophatemic rickets (vitamin D
resistant rickets), ornithine
3. LAW OF SEGREGATION This is also transcarbamylase deficiency
known as Mendel’s third law of 4. X-Linked Recessive - Is a way a genetic
inheritance. The law of segregation trait or condition can be passed down from
states that during the production of parent to child through mutation
gametes, two copies of each (changes) in a gene on the X chromosome.
hereditary factor segregate so that (often affected males, but rarely affected
offspring acquire one factor from each females, in each generation).
parent. In other words, allele ex. Hemophilia A, Duchenne muscular
(alternative dystrophy
form of the 5. Mitochondrial - Mitochondrial genes are
gene) pairs inherited only from the mother. If there is a
segregate mutation in a mitochondrial gene, it is
during the passed from a mother to all of her
formation of children; sons will not pass it on, but
gamete and daughters will pass it on to all of their
re-unite children, and so on.
randomly ex. Leber’s hereditary optic neuropathy,
during Kearns-Sayre syndrome
fertilization.
POLYGENIC INHERITANCE
PATTERNS OF INHERITANCE (Mendelian A polygenic trait is a characteristic, such as height
Genetics) or skin color, that is influenced by two or more
genes. Because multiple genes are involved,
polygenic traits do not follow the patterns of
Mendelian inheritance. Many polygenic traits are
INHERITANCE PATTERN
also influenced by the environment and are called
➢ Refers to the different ways in which traits multifactorial.
are passed from one generation to
another. 3 MAIN DOMINANCE PATTERNS
The basic laws of inheritance are important in
1. COMPLETE DOMINANCE - is a form of
understanding patterns of disease transmission.
dominance wherein the dominant alle
The inheritance patterns of single gene diseases
completely masks the effect of the
are often referred to as Mendelian since Gregor
recessive allele in heterozygous
Mendel first observed the different patterns of
conditions. A gene (or allele) shows
gene segregation for selected traits in garden
dominance when it suppresses the
peas and was able to determine probabilities of
expression — or dominates the effects —
recurrence of a trait for subsequent generations
of the recessive gene (or allele).
mutant alleles and
the white color is
recessive to all the
alleles.
2. CODOMINANCE - refers to a type of
inheritance in which two versions (alleles)
of the same gene are expressed separately EPISTASIS - A circumstance where the
to yield different traits in an individual. expression of one gene is modified (e.g., masked,
That is, instead of one trait being dominant inhibited or suppressed) by the expression of one
over the other, both traits appear, such as or more other genes.
in a plant or animal that has more than one PLEIOTROPY - Refers to the common
pigment color. phenomenon of variation in a gene
simultaneously affecting different phenotypes.
Pleiotropy is derived from a Greek word meaning
more ways. A simple example of a Pleiotropy is
phenylketonuria is a disease. It is a genetic
disorder caused by the low metabolism of the
amino acid phenylalanine in the body cells.
3. INCOMPLETE DOMINANCE - is a type of
inheritance pattern in which one allele for
a trait is not completely dominant over the
other allele. It is nothing but a combined
NON-MENDELIAN INHERITANCE
expression of the two alleles in the
heterozygous condition producing a blend MITOCHONDRIAL INHERITANCE
of the two individual phenotypes.
MITOCHONDRIA - are often referred to as the "
Incomplete dominance is also called
powerhouses of the cell." They are essential
partial dominance or semi-dominance.
organelles found in most eukaryotic cells. Their
primary function is to generate energy for the cell
through a process called cellular respiration.
➢ KEY FEATURES OF MITOCHONDRIA
o Double membrane: A smooth
outer membrane and a folded inner
membrane called cristae.
o Matrix: The space within the inner
membrane, containing enzymes
involved in cellular respiration.
o Mitochondrial DNA (mtDNA): A
small, circular DNA molecule that
encodes proteins essential for
mitochondrial function.
- Mitochondrial DNA is
exclusively inherited from
MULTIPLE ALLELES the mother. This is because
mitochondria are primarily
➢ Are the many different versions of a trait
found in the cytoplasm of
that exist within a population
the egg cell, and sperm cells
ex: The eye color in Drosophila is another
contribute very little
trait that is determined by multiple alleles.
cytoplasm during
There is a dozen different alleles that show
fertilization. As a result, all
phenotype between the wild-type red
offspring inherit their
color (w+) and white color (w). E.g. coral,
mitochondrial DNA from
blood, eosin, cherry, apricot, etc. The wild-
their mother.
type red color is dominant over all other
o Mitochondrial diseases are a different tissues and
group of disorders caused by organs in varying
defects in mitochondrial DNA or degrees, making it
nuclear genes that affect difficult to develop
mitochondrial function. These treatments that
diseases can affect various organs address all
and tissues, leading to a wide range symptoms
of symptoms. - Potential Therapeutic
- Examples of Approaches
mitochondrial diseases: • Gene therapy: This
• Leber ' s hereditary involves introducing
optic neuropathy a normal copy of a
(LHON): A condition mutated gene into
that causes the mitochondria.
progressive vision • Mitochondrial
loss. replacement
• Mitochondrial therapy: This
myopathy: A involves replacing
disorder that affects defective
muscles and can mitochondria with
lead to weakness, healthy
fatigue, and pain. mitochondria from a
• Mitochondrial donor.
encephalopathy, • Antioxidant
myopathy, lactic therapy:
acidosis, and Antioxidants may
stroke-like help protect
episodes (MELAS): mitochondria from
A condition that can damage and reduce
cause seizures, the severity of
stroke-like episodes, symptoms.
and lactic acidosis. • Metabolic
• Kearns-Sayre therapies: These
syndrome: A therapies aim to
condition that improve
affects the eyes, mitochondrial
muscles, and function by targeting
nervous system. specific metabolic
- Challenges in Treating pathways
Mitochondrial Diseases
LINKAGE AND RECOMBINATION
• Maternal
inheritance: Since
mitochondrial DNA
LINKAGE - refers to the phenomenon where
is inherited
genes located close together on a chromosome
maternally, it is
tend to be inherited together. This occurs
difficult to treat or
because during meiosis, the chromosomes are
prevent these
physically linked and recombine less frequently
diseases.
than genes that are farther apart.
• Heteroplasmy:
Many individuals
with mitochondrial
diseases have a RECOMBINATION - is the process of exchanging
mixture of normal genetic material between homologous
and mutated chromosomes during meiosis. It occurs when
mtDNA. This can corresponding segments of homologous
make it difficult to chromosomes break and are then rejoined to
predict the severity each other. Recombination is essential for
of symptoms and to genetic diversity and the creation of new
develop effective combinations of alleles
treatments.
• Tissue specificity:
Mitochondrial
diseases can affect
LINKAGE ANALYSIS - is a genetic technique used ENVIRONMENTAL INFLUENCE ON GENE
to map genes and identify disease-causing EXPRESSION
mutations. It involves studying the inheritance
Nature vs. Nurture Debate The nature vs.
patterns of traits or genetic markers that are
nurture debate is a long-standing discussion
linked to a particular gene of interest. By analyzing
about the relative contributions of genetics
the frequency of recombination between these
(nature) and environment (nurture) to traits and
markers and the gene, researchers can estimate
behaviors. While it is now widely recognized that
the relative distance between them on the
both nature and nurture play a role, the exact
chromosome
proportions can vary depending on the trait
APPLICATION OF LINKAGE ANALYSIS
1. Genetic research: Linkage analysis is
Epigenetics is the study of changes in gene
used to identify genes involved in various
expression that are not caused by changes in the
traits and diseases, such as genetic
DNA sequence. These changes can be influenced
disorders, complex traits, and quantitative
by environmental factors and can be passed on to
traits.
offspring.
2. Genetic counseling: It can help families
understand their risk of inheriting genetic Environmental Factors that Can Influence
disorders and make informed decisions Gene Expression:
about family planning.
3. Agricultural genetics: Linkage analysis is 1. Diet: The nutrients you consume can
used to identify genes that control affect gene expression, particularly in
important agricultural traits, such as yield, areas like metabolism and development.
disease resistance, and quality. 2. Stress: Chronic stress can alter gene
4. Forensic genetics: It can be used to expression, leading to changes in mood,
analyze DNA evidence and identify behavior, and health.
individuals or determine familial 3. Exposure to toxins: Exposure to toxins,
relationships such as pollutants and chemicals, can
damage DNA and alter gene expression.
Examples of Environmental Influences on
GENE INTERACTIONS - occur when the Traits
combined effect of multiple genes influences a
particular trait. This contrasts with simple 1. Disease susceptibility: Environmental
Mendelian inheritance, where a single gene factors can increase or decrease a person
determines a trait. ' s risk of developing certain diseases,
such as cancer and heart disease.
TYPES OF GENE INTERACTIONS 2. Intelligence: While intelligence is
influenced by genetics, environmental
1. Epistasis: When the expression of one
factors such as education, nutrition, and
gene masks or modifies the expression of
early childhood experiences can also play
another gene. For example, in Labrador
a significant role.
retrievers, the coat color gene can be
masked by a gene that determines
whether pigment is produced APPLICATION MENDELIAN GENETICS
Ex: Coat color in Labrador retrievers: The
coat color of Labrador retrievers is
determined by two genes: one that PEDIGREE ANALYSIS - is a family tree that shows
controls the production of pigment and the inheritance of traits. It is used to trace the
another that controls the type of pigment occurrence of specific traits or genetic disorders
produced within a family.
2. Polygenic inheritance: When multiple
genes contribute to a trait, resulting in a
continuous variation of the trait. Examples
include height, weight, and intelligence
Ex: Height in humans: Height is influenced
by multiple genes, as well as
environmental factors such as nutrition
and exercise
COMMON USED SYMBOLS FOR PEDIGREE ➢ Have been diagnosed with a genetic
ANALYSIS condition.
➢ Are facing reproductive decisions, such as
➢ Male - Square
whether to have children or choose
➢ Female - Circle
prenatal testing
➢ Affected Individual - Filled Shape
➢ Carrier - Half-filled shape
➢ Unknown sex – Diamonds
Genetic Disorders and Inheritance
➢ Genetic disorders are conditions caused
by abnormalities in genes or
chromosomes. These abnormalities can
be inherited from parents or acquired
during a person ' s lifetime.
➢ Inheritance refers to the passing of
genetic material from one generation to
the next. Genetic disorders can be
inherited in different patterns, depending
on the location of the affected gene and
whether it is dominant or recessive
Determining the Mode of Inheritance
➢ Family history: Look for patterns of
affected individuals within the family.
➢ Sex ratios: Examine whether the trait is
more common in males or females.
➢ Parent-offspring relationships: Consider
the relationships between affected and
unaffected individuals.
➢ Consanguinity: Check for marriages
between close relatives
GENETIC COUNSELING is a process that helps
individuals understand and cope with the
implications of genetic information. It provides
information, support, and guidance to individuals
and families who are facing decisions about
genetic testing, reproductive planning, or
managing genetic conditions
ROLE OF GENETIC COUNSELERS
➢ Information: They explain complex
genetic concepts in a clear and
understandable way, helping individuals
understand their risk for genetic disorders
and the available options.
➢ Support: They offer emotional support
and guidance to individuals and families
who are dealing with difficult genetic
information.
➢ Guidance: They help individuals make
informed decisions about genetic testing,
reproductive planning, and healthcare
options.
When Genetic Counseling is Recommended
➢ Genetic counseling is often
recommended for individuals who:
➢ Have a family history of genetic disorders.
➢ Are concerned about their risk of passing
on a genetic condition to their children.
Are considering genetic testing for
themselves or their family members.