NON-MENDELIAN

INHERITANCE
FAYARA ARETHA KUNAEFI
GROUP D | FG3
QUESTIONS 7-10
7. Describe the non-mendelian inheritance!
8. Explain the cytoplasmic and mitochondrial
succession!
9. Explain the anticipation and the mosaicism!
10. Describe the concept of polygenic and
multifactorial inheritance!
 NON-MENDELIAN INHERITANCE
Non-Mendelian inheritance deviates from classical Mendelian
principles, introducing complexity to genetic traits influenced by
various factors.

Mendelian Inheritance have the following characteristics

Simplicity: Traits determined by single genes.
Laws of Segregation and Independent Assortment:
Alleles segregate during gamete formation, and different
gene pairs assort independently.
Predictability: Phenotypes follow predictable ratios in
offspring.
Dominant and Recessive Alleles: Dominant alleles mask
the effects of recessive alleles.
Single-Gene Traits: Traits are often controlled by a single
gene locus.
Homologous Chromosomes: Genes are located on
homologous chromosomes.
Punnett Squares and Pedigrees: Tools used for predicting
and analyzing inheritance patterns.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Comparison of Mendelian vs. Non-Mendelian Inheritance

NON-MENDELIAN INHERITANCE
MENDELIAN INHERITANCE AND NON-MENDELIAN INHERITANCE
INHERITED DISORDERS AND INHERITED DISORDERS
Single Gene Disorders: Many inherited disorders result from Complex Genetic Factors: Non-Mendelian inheritance involves
mutations in a single gene, following Mendelian patterns. interactions between multiple genes, environmental factors, and
Autosomal Dominant Disorders: In cases where a dominant other mechanisms, contributing to complex traits and disorders.
allele carries a harmful mutation, individuals with one copy of Multifactorial Disorders: Conditions influenced by both genetic
the mutated gene (heterozygotes) may express the disorder. and environmental factors, such as heart disease, diabetes, and

AS
Autosomal Recessive Disorders: For recessive disorders, certain types of cancers.
AS
Triplet Repeat Disorders: Diseases caused by expansions of
individuals need to inherit two copies of the mutated gene
three-nucleotide sequences (triplet repeats) can exhibit non-
(homozygotes) to manifest the disorder.
Mendelian inheritance patterns, leading to anticipation and
X-Linked Disorders: Mutations on the X chromosome can
variable expressivity.
lead to X-linked recessive disorders, affecting males more
Genomic Imprinting Disorders: Alterations in imprinted genes
frequently than females. can result in disorders like Prader-Willi and Angelman syndromes.
Mitochondrial Disorders: Diseases arising from mutations in
mitochondrial DNA inherited maternally can lead to various clinical
manifestations.

1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
Comparison of Mendelian vs. Non-Mendelian Inheritance

NON-MENDELIAN INHERITANCE
Common Aspects:
Genetic Basis: Both Mendelian and non-Mendelian
inheritance involve the transmission of genetic information,
contributing to the heritability of traits and disorders.
Mutations: Inherited disorders often result from genetic
mutations, whether single gene mutations in Mendelian
inheritance or the complex interplay of genetic and
environmental factors in non-Mendelian inheritance.
Heterogeneity: Both types of inheritance contribute to the
genetic heterogeneity observed in the occurrence of
inherited disorders within populations.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Additional Terminology

MENDELIAN DEVIATION
Incomplete Dominance:
Definition: Neither allele is completely dominant,
and the heterozygous phenotype is an
intermediate or blended expression of the two
homozygous phenotypes.
Example: In snapdragons, red (RR) and white
(WW) homozygotes produce pink (RW)
heterozygotes.

Codominance:
Definition: Both alleles in a heterozygous
individual are fully expressed, and the phenotype
shows characteristics of both alleles.
Example: In blood type, an individual with AB
blood type expresses both A and B antigens.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Additional Terminology

MENDELIAN DEVIATION
Multiple Alleles:
Definition: More than two alleles exist for a
particular gene within a population, but each
individual still carries only two alleles.
Example: The ABO blood group system has three
alleles: IA, IB, and i.

Sex-Linked Inheritance:
Definition: Genes located on the sex
chromosomes (X and Y) exhibit different
inheritance patterns than autosomal genes.
Example: Color blindness and hemophilia, which
are more common in males due to the presence
of these genes on the X chromosome.
Picture to the left is an example of X-Linked
dominant inheritance.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Additional Terminology

MENDELIAN DEVIATION

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Additional Terminology

MENDELIAN INHERITANCE
Epistasis:
Definition: Interaction between genes where the
expression of one gene influences the expression
of another gene.
Example: Coat color in mice, where one gene
determines pigment production, and another
gene determines whether the pigment is
deposited in the fur.

Incomplete Penetrance:
Definition: Individuals with a particular genotype
do not always express the associated
phenotype.
Example: A genetic mutation may be present,
but the individual may not show symptoms of
the associated disorder.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Types of

NON-MENDELIAN INHERITANCE
Polygenic Inheritance:
Definition: Traits are controlled by the combined
effects of multiple genes.
Example: Human traits like height, intelligence,
and skin color are influenced by the interaction
of numerous genes.

Genomic Imprinting:
Definition: The expression of a gene depends on
its parent of origin, with one allele being
epigenetically (i.e DNA methylation) silenced.
Example: Angelman syndrome and Prader-Willi
syndrome result from the loss of genetic
material from chromosome 15, but the specific
syndrome depends on whether the deletion
occurs on the maternal or paternal chromosome.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 Genomic Imprinting - Uniparental Disomy

NON-MENDELIAN INHERITANCE

Non-disjunction during meiosis I / II can cause

gametes with an extra or missing chromosome.
If fertilization occurs with a normal gamete,
trisomy or monosomy may occur.
Uniparental disomy (UPD) occurs when both
chromosomes are inherited from one parent.
Genomic imprinting involves epigenetic
modifications on genes based on parental origin.
UPD affecting regions with imprinted genes
can disrupt normal gene expression balance.
Disruption in genomic imprinting due to UPD
can lead to specific genetic disorders.
Prader-Willi and Angelman syndromes are
examples where UPD on chromosome 15 results in
distinct phenotypes based on parental origin.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION
Genes in eukaryotes are primarily located in the nucleus and follow Mendelian inheritance
through meiosis.
Eukaryotic cells also contain smaller genomes in the cytoplasm, such as mitochondrial DNA.
Cytoplasmic genetic elements, including mitochondrial DNA, exhibit strictly maternal
inheritance, unlike nuclear genomes, which are inherited equally from both parents.
Mitochondrial proteins are encoded in both nuclear and organelle genomes.
Biogenesis of mitochondria and chloroplasts requires coordinated contributions from these
two distinct genetic systems.
Most organelle proteins are encoded by nuclear DNA and imported into organelles through
protein translocases (TOM and TIM).

1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION

1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Inheritance of mitochondrial and chloroplast DNA [Internet]. United States: Khan Academy.org; [cited 2023 Feb 8]. Available from: https://www.khanacademy.org/science/ap-biology/heredity/non-mendelian-
genetics/a/mitochondrial-and-chloroplast-dna-inheritance
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION

Animals and plants show uniparental

mitochondrial inheritance, with egg cells
contributing significantly more mitochondria
than male gametes.
Human oocytes contain about 100,000
copies of maternal mitochondrial DNA,
while sperm cells contain only a few.
An active process degrades DNA in sperm
mitochondria, and they are eliminated from
the fertilized egg by autophagy (sperm
mitochondria does not enter egg), ensuring
maternal inheritance.

1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Inheritance of mitochondrial and chloroplast DNA [Internet]. United States: Khan Academy.org; [cited 2023 Feb 8]. Available from: https://www.khanacademy.org/science/ap-biology/heredity/non-mendelian-
genetics/a/mitochondrial-and-chloroplast-dna-inheritance
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION
Significance of Mitochondrial Gene Variants
Mitochondria play a crucial role in energy production, vital
for normal functioning in organs like the brain, heart,
muscles, kidneys, and liver.
The mitochondrial respiratory chain (complexes 1 to 5)
governs ATP synthesis, regulated by genes in both
mitochondrial and nuclear DNA.
Genetic variations in these genes can be benign or
pathogenic, influencing health and development.
Mitochondrial gene variants can disrupt enzyme
production, leading to inadequate ATP and impacting
overall body function.
Some mothers carry a mix of normal and mutant
mitochondrial genomes, and their offspring inherit this
mixture.
Diseases caused by mitochondrial DNA mutations are
passed from affected mothers to both daughters and
sons, but only daughters may transmit the disease to
their children.
Symptoms of mitochondrial DNA diseases vary widely
among family members due to the random nature of
mitotic segregation
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Inheritance of mitochondrial and chloroplast DNA [Internet]. United States: Khan Academy.org; [cited 2023 Feb 8]. Available from: https://www.khanacademy.org/science/ap-biology/heredity/non-mendelian-
genetics/a/mitochondrial-and-chloroplast-dna-inheritance
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION

During cell division, nuclear

material is evenly distributed
to daughter cells.
However, mitochondrial
DNA (mtDNA) is not evenly
split.
Result: Each daughter cell
may contain a mix of healthy
and mutant mtDNA.
Variation in mutation load
among daughter cells is
observed.

1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. McCormick EM, Muraresku CC, Falk MJ. Mitochondrial Genomics: A Complex Field Now Coming of Age. Current Genetic Medicine Reports. 2018 May 2;6(2):52–61.
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION
EXPRESSION CAN VARY DEPENDING ON THE PROPORTION OF MITOCHONDRIA CARRYING THE MUTATION.

All children of the grandmother,

regardless of gender, inherit some
nonfunctional mitochondria.
Symptoms develop only if the
proportion and number of
nonfunctional mitochondria reach a
threshold.
Unaffected children with the gene
variant may have sufficient working
copies compared to non-working
ones, preventing the development
of symptoms.
Grandmother's daughters have a
chance of having a child with the
mitochondrial condition.
Sons do not transmit the mutation,
but daughters pass it on to all their
children and successive
generations.

1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Inheritance of mitochondrial and chloroplast DNA [Internet]. United States: Khan Academy.org; [cited 2023 Feb 8]. Available from: https://www.khanacademy.org/science/ap-biology/heredity/non-mendelian-
genetics/a/mitochondrial-and-chloroplast-dna-inheritance
 CYTOPLASMIC AND MITOCHONDRIAL
SUCCESSION
Homoplasmy:
All mitochondria within a cell or organism carry
identical mitochondrial DNA.
Results from the transmission of the same mtDNA
variant from the mother to all offspring.
Heteroplasmy:
A mix of different mitochondrial DNA variants exists
within an individual's cells or tissues.
Occurs when some mitochondria carry one mtDNA
variant, while others carry a different variant.
Arises from variations in mtDNA transmission during
cell division.
Clinical Implications:
Homoplasmy:
Diseases with homoplasmic mutations show
consistent and predictable symptoms.
Heteroplasmy:
Diseases with heteroplasmic mutations exhibit
variable and unpredictable symptoms.
Severity depends on the proportion of mutant and
non-mutant mtDNA in affected tissues.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Inheritance of mitochondrial and chloroplast DNA [Internet]. United States: Khan Academy.org; [cited 2023 Feb 8]. Available from: https://www.khanacademy.org/science/ap-biology/heredity/non-mendelian-
genetics/a/mitochondrial-and-chloroplast-dna-inheritance
 ANTICIPATION & MOSAICISM
Anticipation in Genetic Disorders:
Refers to the tendency for genetic disorders to worsen or manifest earlier in
successive generations.
Manifestation progression: Increased severity or earlier onset per generation.
Associated Disorders:
Commonly observed in neurological genetic disorders like Huntington's disease,
myotonic dystrophy, and fragile X syndrome.
Often linked to trinucleotide repeat expansions, a unique mutation.
Trinucleotide Repeat Expansion:
Occurs when a sequence of three DNA nucleotides is repeated multiple times.
Instability during cell division leads to errors.
Number of repeats can change as the gene passes from parent to child.
Trinucleotide repeat expansion results from an increase in repetitions.
May lead to dysfunctional genes and worsening disorder features across generations.
Genetic Variability:
Genetic disorders exhibit variable signs and symptoms even within affected families.
Not all variations can be attributed to anticipation.
Likely influenced by a combination of genetic, environmental, and lifestyle factors.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 ANTICIPATION & MOSAICISM
Process of Trinucleotide Repeat Replication

After a round of replication, the hairpin structure will be

integrated back to the DNA, elongating the repeat region

Trinucleotide repeats are repetitive DNA sequences with three nucleotides, often following the CNG pattern.
Present throughout the human genome, these repeats are found in coding and non-coding DNA regions.
They can form slipped-stranded DNA structures during replication when DNA polymerase skips repeats.
This skipping creates a hairpin structure, impacting the number of repeat sequences.
The expansion or contraction of trinucleotide repeats can have significant effects on gene function.
Associated with genetic disorders, the length of these repeats influences disease severity and onset.
Repeat sequences within the DNA coding region can impact protein structure and function, leading to
abnormal protein function -> severe changes in phenotype and genotype.

Urone PP, Hinrichs R. College Physics. Houston, Tx: Openstax College; 2012. Chapter 11, Fluid Physics.
1. Adkison LR. Elsevier’s Integrated Review Genetics E-Book. Elsevier Health Sciences; 2011.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
 ANTICIPATION & MOSAICISM
Mosaicism - a condition where a person's body possesses two or
more genetically distinct groups of cells.
Genetic information is inherited from egg and sperm cells,
residing within the nucleus of every cell in the human body.
Fertilized egg duplicates its genetic material during cell
division, forming tissues and organs.
Mosaicism arises from mitotic errors, causing uneven cell
division and resulting in cells with more (47) or fewer (45)
chromosomes.
In cases of in utero mitotic errors, 50% of an individual's
cells could be abnormal.
Impact: Can lead to diseases linked from the cellular to tissue
levels (e.g., skin, brain, or other organs) if abnormal cells
outnumber normal ones.
Arises from an early error in cell division during fetal
development.
Examples: Mosaic Down syndrome
Health Implications: Higher frequency of mosaicism in the body
increases the likelihood of developing health conditions.

Urone PP, Hinrichs

1. Adkison R. College
LR. Elsevier’s Physics. Review
Integrated Houston, Tx: Openstax
Genetics College;
E-Book. 2012.
Elsevier Chapter
Health 11, Fluid
Sciences; 2011.Physics.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Chromosome mosaicism [Internet]. Yale Medicine. Yale Medicine; 2020 [cited 2023Feb10].
Available from: https://www.yalemedicine.org/conditions/mosaicism
 ANTICIPATION & MOSAICISM

Somatic Mosaicism:
Multiple cell lineages in somatic cells.
Does not pass to offspring (germ cells unaffected).
Recent studies suggest preimplantation somatic
mosaicism may impact both somatic and germline
cells.
Germline Mosaicism:
Multiple cell lineages in germline cells.
Passed to offspring.
Individual unaffected if only germline cells are
mutated, but mosaicism affects and may impact the
offspring.

Urone PP, Hinrichs

1. Adkison R. College
LR. Elsevier’s Physics. Review
Integrated Houston, Tx: Openstax
Genetics College;
E-Book. 2012.
Elsevier Chapter
Health 11, Fluid
Sciences; 2011.Physics.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
3. Chromosome mosaicism [Internet]. Yale Medicine. Yale Medicine; 2020 [cited 2023Feb10].
Available from: https://www.yalemedicine.org/conditions/mosaicism
POLYGENIC & MULTIFACTORIAL
INHERITANCE
Polygenic Inheritance:
Polygenic traits exhibit continuous variation.
Controlled by two or more genes (polygenes).
Human characteristics like height, skin color, and weight.
Normal Distribution and Polygenic Traits:
Polygenic inheritance often leads to normal distribution.
Continuous variation results from multiple genes and
environmental influences.
Human Characteristics:
Polygenic inheritance affects traits like height, skin color, and
weight.
Polygenes contribute to a broad range of physical characteristics.
Environmental Impact on Polygenic Traits:
Milk yield in cows as an example.
Genetic makeup and environmental factors interact.
Continuous variation in polygenic traits arises from this
interaction.

Urone PP, Hinrichs

1. Adkison R. College
LR. Elsevier’s Physics. Review
Integrated Houston, Tx: Openstax
Genetics College;
E-Book. 2012.
Elsevier Chapter
Health 11, Fluid
Sciences; 2011.Physics.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
POLYGENIC & MULTIFACTORIAL
INHERITANCE
Multifactorial Inheritance:
Interaction of genes and environmental factors.
Alters both genotype and phenotype.
Quantitative Traits:
Numerous qualities involve multiple factors.
Influences range from lifestyle to environmental conditions.
Threshold Model Focus:
Emphasizes the population liability.
Symptoms must manifest to be considered a problem.
Exhibits a normal distribution.
Distinctive Characteristics of Multifactorial Disease:
Can occur in isolation, born to unaffected parents.
Familial aggregation is common but lacks clear Mendelian
pattern.
Environmental influences impact disease risk.
Gender-specific prevalence without being sex-limited.
Higher risk in first-degree relatives of less affected gender.
Ethnic-specific prevalence (Caucasians, Africans, Asians,
Hispanics, etc.).

Urone PP, Hinrichs

1. Adkison R. College
LR. Elsevier’s Physics. Review
Integrated Houston, Tx: Openstax
Genetics College;
E-Book. 2012.
Elsevier Chapter
Health 11, Fluid
Sciences; 2011.Physics.
2. Alberts B. Molecular Biology of the Cell. 6th ed. New York, Ny: Garland Science; 2015.
THANK YOU