GENETICS

LECTURE 4 | NON-MENDELIAN GENETICS

SIMPLE MENDELIAN INHERITANCE

Mendelian inheritance – inheritance paterns that obey two

laws:
a. the law of segrega�on
b. law of independent assortment.
Simple Mendelian Inheritance – observed ra�os in the
offspring clearly obey Mendel’s laws.

Mendelian Inheritance Paterns Involving Single Genes

1. To predict the outcome of crosses. Many of the
inheritance paterns do not produce a 3:1 phenotypic
ra�o when two heterozygotes produce offspring.
2. To understand how the molecular expression of genes
can account for an individual’s phenotype
TYPES OF MENDELIAN INHERITANCE PATTERNS INVOLVING
SINGLE GENES

DOMINANT AND RECESSIVE ALLELES

• Wild Type - prevalent alleles in a natural popula�on.
• Gene�c Polymorphism – phenomenon in large
popula�on when more than one wild type allele occurs
• wild-type alleles tend to promote the reproduc�ve
success of organisms in their na�ve environments.
• Mutant Alleles – altered pre-exis�ng alleles cause by
random muta�on that occurs in the popula�on.
• random muta�ons are more likely to disrupt gene
func�on
• mutant alleles are o�en defec�ve in their ability to
express a func�onal protein.
• mutant alleles tend to be rare in natural popula�ons.
• Inherited in a recessive fashion
• gene�c disease is usually caused by a mutant allele

DOMINANT MUTANT ALLELES USUALLY EXERT THEIR

EFFECTS IN ONE OF THREE WAYS

1. Gain-of-func�on muta�ons
o change the gene or the protein encoded by a
gene so that it gains a new or abnormal
func�on.
2. Dominant-nega�ve muta�ons
o change a protein such that the mutant protein
acts antagonis�cally to the normal protein.

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LECTURE 4 | NON-MENDELIAN GENETICS
3. Haploinsufficiency
o dominant mutant allele is a loss of-func�on
allele.
o Haploinsufficiency is used to describe paterns
of inheritance in which a heterozygote (with
one func�onal allele and one inac�ve allele)
exhibits an abnormal or disease phenotype
CODOMINANCE
• Codominance occurs when both alleles are
expressed equally in the phenotype of the
heterozygote.
• Both traits are dominant, and show up in the
phenotype together; hindi nagbeblend yung traits
• Co means “together”

• Incomplete penetrance – when allele that is expected

to cause a par�cular phenotype does not
• Expressivity - degree to which trait is expressed
• The environment may affect the outcome of the
phenotype.
• One or more modifier genes may also affect the
phenotype
MULTIPLE ALLELISM – may exist in a popula�on level, and
different individuals in the popula�on may have different
ENVIRONMENTAL EFFECTS ON GENE EXPRESSION
pairs of these alleles
• norm of reac�on - refers to the effects of
environmental varia�on on a phenotype

Blood Type Inheritance Rules:

INCOMPLETE DOMINANCE
• The hybrid (heterozygous) offspring displays a
THIRD phenotype,
• Neither trait is completely dominant, as a result,
there appears to be a blending phenotype.
• condi�on in which the phenotype of a
heterozygote is intermediate between the
corresponding homozygous individuals.
1. A person with the IA allele will have A
carbohydrates.
2. A person with the IB allele will have B carbohydrates.
3. A person with the recessive i allele will have no
carbohydrates.
4. Or a person with both IA and IB alleles will have both
A and B carbohydrates on their cells.

OVERDOMINANCE
- the interac�on between genes that are alleles and
result in the heterozygous individuals being
superior to either of the homozygous parents.

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LECTURE 4 | NON-MENDELIAN GENETICS
Ex-Influenced and Sex-Limited Traits
• Genes for some traits are found on the sex
chromosomes (X or y)
• Most of these traits are recessive the normal gene
is dominant
• Heterozygous Females (XXc) are carriers. They do
not show the trait, but carry a gene for the trait.
• Homozygous Females (XcXc) have the trait.
• Males with the gene (XcY) have the trait. —They do
not have another X to counterbalance the affected
gene
• Color blindness is a sex-linked recessive trait.
• The gene for this trait is inherited through the X
chromosome.
LETHAL GENES
• If an allele makes one of these genes nonfunc�onal, or
causes it to take on an abnormal, harmful ac�vity, it may
be impossible to get a living organism with a
homozygous genotype
Note: saka lang lalabas yung trait kapag both leters meron
UNDERSTANDING COMPLEX PHENOTYPES CAUSED BY
MUTATIONS IN SINGLE GENES
GENE INTERACTIONS
• Phenomenon that describes how the allelic variants of
two different genes affect a single trait.
• A gene interac�on can exhibit epistasis and
complementa�on
TYPES OF MENDELIAN INHERITANCE PATTERNS INVOLVING
TWO GENES
1. Epistasis
• In epistasis, the interac�on between genes is
antagonis�c, such that one gene masks or interferes
with the expression of another.
• The alleles that are being masked or silenced are
said to be hyposta�c to the epista�c alleles that are
doing the masking.
• The expression of one gene is dependent on the
func�on of a gene that precedes or follows it in the
pathway
TYPES OF EPISTASIS
• Dominant Epistasis: It is a simple or dominant
epistasis whenever a dominant allele conceals the
expression of both recessive and dominant alleles
at other loci

Pleiotropy
• mul�ple effects of a single gene on the phenotype of
an organism
• Pleiotropy occurs when the expression of a single
gene has two or more phenotypic effects
• Pleiotropy occurs for several reasons, including the
following:
1. The expression of a single gene can affect cell
func�on in more than one way. For example,
a defect in a microtubule protein may affect
• Recessive Epistasis: It is a recessive epistasis when
cell division and cell movement.
the recessive allele conceals the expressing.
2. A gene may be expressed in different cell
types in a mul�cellular organism. For
example, a gene may be expressed in a
muscle cell and also expressed in a nerve cell.
3. A gene may be expressed at different stages
of development. For example, a gene may be
expressed during embryonic development
and also expressed in the adult.

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LECTURE 4 | NON-MENDELIAN GENETICS
• Dominant Inhibitory: It is suppression epistasis or
dominant inhibitory when genes conceal other
genes by suppression
4. Gene redundancy – loss of func�on in a single gene has
no phenotypic effect, but the loss of func�on of two
genes has an effect. Func�onality of only one of the
two genes is necessary for a normal phenotype; the
genes are func�onally redundant.

• Duplicate Recessive: There is a recessive allele

concealing the expression of dominant alleles at
two loci

• Duplicate Dominant: Epistasis is said to be

duplicate dominant whenever there is a dominant
allele concealing the expression of recessive
alleles at two loci.

2. Complementa�on – phenomenon which two different

parents that express the same or similar recessive
phenotypes produce offspring with wild-type
phenotype
3. Modifying genes – allele of one gene modifies the
phenotypic outcome of the alleles of different gene

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