Mendelian and Non-
Mendelian Genetics
LEARNING OUTCOMES
At the end of the lesson, you should be able to:
1) Define and be able to use the following terms
correctly: genotype, phenotype, homozygous,
heterozygous, alleles and genes.
2) Discuss the Mendelian model of inheritance.
Describe patterns of inheritance (e.g. sex linkage,
dominant, recessive, codominant and incomplete
dominant.)
3) Describe genotypic and phenotypic variation.
TOPIC 1:
Genotypic and Phenotypic Variation
• http://sciencewithmrsb.weebly.com/genetic-variation.htmlz
Source: http://sciencewithmrsb.weebly.com/genetic-
variation.html
Genotype and Phenotype
The genotype is a set of genes in
DNA responsible for unique traits or
characteristics, while the
phenotype is the physical
appearance or characteristic of an
organism.
Genotype
and
Phenotype
What is the definition of a
phenotype?
• The sum of an organism’s observable
characteristics is their phenotype.
• A key difference between phenotype and
genotype is that, whilst genotype is inherited
from an organism’s parents, the phenotype is
not.
• Whilst a phenotype is influenced the genotype,
genotype does not equal phenotype.
The phenotype is influenced by the genotype and factors including:
Epigenetic modifications Environmental and lifestyle
factors
• Refer to heritable alterations
that are not due to changes in
DNA sequence. Rather, • Color variation in the feather
epigenetic modifications, or of flamingos.
“tags,” such as DNA methylation Caused by the diet they have.
and histone modification, alter
DNA accessibility and chromatin
structure, thereby regulating
patterns of gene expression.
Epigenetics
Homozygous and
Heterozygous
Gene and Allele
• Gene is defined as a
section of DNA that
encodes for a
certain trait. An
allele is defined as a
variant form of a
gene. It determines
an organism's
genotype.
Gene Vs. Allele
Characteristics Particular Variation
Example: Example:
1. Eye color 1. Brown, Blue, Black
2.Height 2. Tall, Small
Allele = Phenotype
Alleles contribute to the organism's phenotype, which is the
outward appearance of the organism. Some alleles are dominant or
recessive.
Gene = Genotype
The genotype of an organism includes its entire set of genes. Genes
come into from an offspring's parents. They are responsible for
features passing from one generation to the next. Every human
carries a unique genotype, which is responsible for the vast variety
in appearance and biology
Gene
and
DNA
Genes and Alleles
• When humans undergo reproduction, the child obtains 23
chromosomes from each parent. Each matching chromosome
pair carries the same set of genes, with unique genes present
at certain spots known as the gene locus.
Genes and Alleles
Genes and Alleles
• This inheritance describes that
individuals consist of two gene
copies for a given trait. One
gene copy is inherited from
their mother while the other
one is inherited from their
father. These gene copies are
said to
be maternal and paternal
alleles. This allele interaction is
responsible for unique
characteristics.
Sum It Up!
Arrange the following:
Cell - - - - -
Phenotype
Cell
Gene/ Genotype
Chromosome
Allele
DNA
Sum It Up!
Cell- Chromosome – DNA- Gene/ Genotype – Phenotype – Allele
Topic 2:
Mendel’s Experiment
Gregor Johann Mendel
Discovered the fundamental laws
of inheritance through pea plant
experiment. He deduced that genes
come in pairs and are inherited as
distinct units, one from each parent.
Mendel tracked the segregation of
parental genes and their appearance
in the offspring as dominant or
recessive traits.
Mendel purposefully cross- pollinated pea plants
based on their different features to make important
discoveries on how traits are inherited between
generations.
Mendel’s Experiment
Mendelian Patterns of
Inheritance
Inheritance can be defined as the process of how a child
receives genetic information from the parent. The whole
process of heredity is dependent upon inheritance and it is
the reason that the offsprings are similar to the parents.
This simply means that due to inheritance, the members of
the same family possess similar characteristics.
Law of
Dominance
• Mendel’s first law of
inheritance.
• Hybrid offsprings will only
inherit the dominant trait in
the phenotype. The alleles
that are suppressed are called
as the recessive traits while
the alleles that determine the
trait are known as the
dormant traits.
Law of Independent Assortment
Also known as Mendel’s
second law of inheritance, the
law of independent
assortment states that a pair
of trait segregates
independently of another pair
during gamete formation. As
the individual heredity factors
assort independently,
different traits get equal
opportunity to occur together.
Law of
Segregation
The law of segregation states that
during the production of gametes,
two copies of each hereditary factor
segregate so that offspring acquire
one factor from each parent. In
other words, allele (alternative form
of the gene) pairs segregate during
the formation of gamete and re-
unite randomly during fertilization.
This is also known as Mendel’s third
law of inheritance.
Law of Segregation
Topic 3 :
Dominant and Recessive Traits
Cross-breeding experiments of Mendel
Mendel described each of the trait variants as dominant or recessive. Dominant
traits, like purple flower colour, appeared in the F1 hybrids, whereas recessive traits,
like white flower colour, did not.
Cross-breeding experiments of Mendel
Mendel did thousands of cross-breeding experiments. His key finding was
that there were 3 times as many dominant as recessive traits in F2 pea plants
(3:1 ratio).
Human Male Karyotype
https://
www.khana
cademy.org/
science/ap-
biology/
heredity/
non-
mendelian-
genetics/a/
sex-linkage-
sex-
determinati
on-and-x-
inactivation
• A human male has two sex chromosomes,
the X and the Y. Unlike the autosomes (non-
sex chromosomes), the X and Y don’t carry
the same genes and aren’t considered
homologous.
• Instead of an X and a Y, a human female has
two X chromosomes. These X chromosomes
do form a bona fide homologous pair.
• Because sex chromosomes
don’t always come in
homologous pairs, the genes
they carry show unique,
distinctive patterns of
inheritance.
Sex chromosomes in
humans
• Human X and Y chromosomes determine the
biological sex of a person, with XX specifying
female and XY specifying male. Although the
Y chromosome contains a small region of
similarity to the X chromosome so that they
can pair during meiosis, the Y chromosome is
much shorter and contains many fewer
genes.
• To put some numbers to it, the X
chromosome has about 800−900 800−900
800, minus, 900 protein-coding genes with
a wide variety of functions, while the Y
chromosome has just 60−7060−7060,
minus, 70 protein-coding genes, about
half of which are active only in the testes
(sperm-producing organs).
PATTERNS OF INHERITANCE
1. Autosomal Recessive –
Appears in both sexes with
equal frequency; trait tends to
skip generations; affected
offspring are usually born to
unaffected parents; when
both parents are
heterozygote, approximately
¼ of the progeny will be
affected; appears frequently
among the children of
consanguineous marriages.
PATTERNS OF INHERITANCE
XCYc x XCXc
XCYc x XCXc
XC Yc
XC XCXC XCYc
Xc XCXc XcYc
• Examples of autosomal
recessive disorders
include cystic fibrosis, sickle
cell anemia, and Tay-Sachs
disease.
PATTERNS OF INHERITANCE
2. Autosomal Dominant –
appears in both sexes with equal
frequency; both sexes transmit the
trait to their offsprings; does not skip
generations; affected offspring must
have an affected parent unless they
possess a new mutation; when one
parent is affected and the other in
unaffected, approximately ½ of the
offspring will be affected; unaffected
parents do not transmit the trait
PATTERNS OF INHERITANCE
3. X-Linked Dominant – both
males and females are
affected; often more females
than males are affected;
does not skip generations;
affected sons must have an
affected mother; affected
daughters must have either
an affected mother or an
affected father.
X-linked dominant
inheritance refers to genetic
conditions associated with
mutations in genes on the X
chromosome. A single copy
of the mutation is enough to
cause the disease in both
males (who have one X
chromosome) and females
(who have two X
chromosomes).
PATTERNS OF INHERITANCE
4. X-Linked Recessive –
more males than females
are affected; affected
sons are usually born to
unaffected mothers, thus
the trait skips
generations; never
passed from father to son
PEDIGREE LEGEND
PATTERNS OF INHERITANCE
5.Y-Linked Dominant
– only males are
affected; passed
from father to all
sons; does not skip
generations
PATTERNS OF INHERITANCE
6. Mitochondrial – trait is inherited from mother only; all children of an
affected mother are at risk to be affected or carriers.
NON-MENDELIAN
INHERITANCE
NON-MENDELIAN INHERITANCE
Pattern of inheritance in which traits
do not segregate in accordance with
Mendel’s laws. These laws describe
the inheritance of traits linked to
single genes on chromosomes in the
nucleus.
1. Co-dominance
• Co-dominance is believed
to be a violation of the Law
of Dominance.
• When the alleles for a
particular trait are co-
dominant, they are both
expressed equally rather
than a dominant allele
taking complete control
over a recessive allele.
1. Co-dominance
This means that when
an organism has two
different alleles (i.e., is
a heterozygote), it will
express both at the
same time.
2. Incomplete dominance
Sometimes in a
heterozygote dominant
allele does not completely
mask the phenotypic
expression of the
recessive allele and there
occurs an intermediate
phenotype in the
heterozygote..
2. Incomplete dominance
• With co-dominant alleles, both
traits are expressed at the
same time. With incomplete
dominance, the same thing
occur but the traits are
blended together rather than
occurring in discrete patches.
• It thus refers to the condition
in heterozygotes
2. Incomplete dominance
Incomplete dominance is a
form of intermediate
inheritance in which one allele
for a specific trait that is not
completely dominant over the
other allele. This results in a
third phenotype in which the
expressed physical trait is a
combination and recessive
phenotypes.
3. Multiple Alleles
• Mendel studied just
two alleles of his pea
genes, but real
populations often
have multiple alleles
of a given gene.
• An example is ABO
blood type in humans.
3. Multiple Alleles
Thank you!
Sources:
https://www.youtube.com/watch?v=3f_eisNPpnc
https://twitter.com/AmoebaSisters/status/803777038293278720
https://www.differencebetween.com/difference-between-autosomes-and-vs-s
ex-chromosomes/
https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/auto
somal-recessive-inheritance
https://www.sciencedirect.com/science/article/abs/pii/S000629522030201X
