Exceptions and Extensions to

MENDELIAN
GENETICS

Introduction
The transmission of inherited traits is not always as straightforward as what Mendel’s pea experiments
indicated. This chapter examines exceptions and extensions to Mendel’s laws.
Essential Questions:
 How do the principles under Non-Mendelian Genetics differ from those in Mendelian Genetics?
 How is genotype and phenotype, as well as their ratios, identified and manifested from the offspring in
monohybrid crosses performed for on-Mendelian Genetics?
Intended Learning Outcomes
 accurately infer the phenotype, genotype, phenotypic ratios, and genotypic ratio that could manifest in
the offspring from a monohybrid cross performed for a Non-Mendelian genetics problem;
 interpret the results of a monohybrid, dihybrid, or trihybrid cross for any genetic problem;
 elaborate on the entire concept of Non-Mendelian genetics, including: (1) incomplete dominance; (2)
codominance; (3) multiple alleles; and (4) others
 compare and contrast through various existing blood groups;
 cite observable phenomenon wherein lethal alleles can be seen; and
 elaborate on how epistasis interferes with the process of gene expression
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Exceptions and Extensions to Mendelian Laws

Pre-test
Directions: Solve the genetic problem regarding codominance presented below. Determine the following: (1) alleles;
(2) parental genotype; (3) segregation of alleles; (4) punnett square; (5) phenotype and genotype of the offspring; and
(6) phenotypic and genotypic ratio.

In bears, both white fur color and black fur color is dominant. Suppose a white bear and a
black fur mates. What will be the results of this cross?

Introduction
 Gregor Mendel’s crosses yielded offspring that were easily distinguished from each other: a pea is either
yellow or green, a plant is either tall or short when it comes to height
 for some characteristics though, offspring classes do not occur in proportions that Punnett Squares or probabilities
predict
 in some cases, transmission patterns of a visible trait are not consistent with a mode of inheritance, such as
autosomal dominant or autosomal recessive
 in these instances, Mendel’s laws operate, and the underlying genotypic ratios persist, but either the nature of the
phenotype or influences from other genes or the environment alter phenotypic ratios (the trait that is actually
seen on an individual)
 following are several circumstances in which phenotypic ratios appear to contradict Mendel’s laws, although
the laws actually still apply; this occurrence is seen on the following circumstances: (1) Incomplete
Dominance; (2) Codominance; (3) Multiple Alleles; (4) Lethal Alleles; (5) Epistasis;
(6) Penetrance and Expressivity; (7) Pleiotropy; (8) Phenocopies;
and (9) Genetic Heterogeneity

Contrary to Mendelian Laws, both alleles for fur color

in Dalmatians are dominant, and both appear in the
phenotype of the organism. There is no recessive trait.
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Incomplete Dominance
Incomplete dominance is a form of intermediate inheritance in which one allele for a specific trait is not completely
expressed over its paired allele. This results in a third phenotype in which the expressed physical trait is a
combination of the phenotypes of both alleles. Unlike complete dominance inheritance, one allele does not dominate
or mask the other.

16/09_11aincompletedominance-l175673429783557017.jpg
Image Ref: https://study.com/cimages/multimages/
Solving an Incomplete Dominance Monohybrid Cross
Problem Example 1: In snap dragons, red petal color is incompletely dominant over
white. Suppose a heterozygous red snap dragon mates with another snapdragon of the
same genotype. What will be the results present in the offspring?

Identify the alleles

Alleles:
o R – incompletely dominant red snap dragon
o r – white snap dragon
Determine the parental genotype
Genotype of the parents:
o Rr – heterozygous Rr – heterozygous Rr X Rr

Segregation

Punnett Square Results and Interpretation

Results:
R r o Phenotype – red, pink, and white
R RR Rr o Genotype – RR, Rr, rr
o Phenotypic Ratio – 1 : 2 : 1
r Rr rr o Genotypic Ratio – 1 : 2 : 1
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Codominance
Codominance is a form of inheritance wherein the alleles of a gene pair in a heterozygote are fully expressed. As a
result, the phenotype of the offspring is a combination of the phenotype of the parents. Thus, the trait is neither dominant
nor recessive. Codominance in humans is exemplified by individuals with type AB blood. A person inheriting the alleles I A
and IB will have a type AB blood because IA and IB are codominant and therefore will be expressed together. Other
codominance examples are the white-spotted red flower in plants and the black-and-white-coated mammals.

Image Ref: https://blogs.ubc.ca/mrpletsch/files/2017/04/Screen-

Shot-2017-04-03-at-6.27.07-PM.png
Solving a Codominance Monohybrid Cross
Problem Example 1: Both white and red skin are dominant in cattle. Create a Punnett
Square which shows the offspring if a heterozygous red cattle mates with a white one.

Identify the alleles

Alleles:
o R – red skin
o W – white skin
Determine the parental genotype
Genotype of the parents:
o RR – homozygous red skin WW – homozygous white skin RR X WW
Segregation
RR X WW

R R W W

Punnett Square Results and Interpretation

Results:
R R o Phenotype – red and white (roan)
o Genotype – RW
W RW RW o Phenotypic Ratio – 4 : 0
W RW RW o Genotypic Ratio – 4 : 0
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Multiple Alleles
There are three or more alternative forms of a gene (alleles) that can occupy the same locus. However, only two of
the alleles can be present in a single organism. For example, the ABO system of blood groups is controlled by three
alleles, only two of which are present in an individual.

BLOOD TYPE GENOTYPE

A A
II IA i
A
homozygous dominant heterozygous
IB IB IB i
B
homozygous dominant heterozygous
IA IB
AB
dominant
ii
O
recessive

Solving a Multiple Alleles Monohybrid Cross

Problem Example 1: A woman who is homozygous for blood type A mates with a man
who is heterozygous for blood type B. Create a Punnett Square which shows the result
of this cross.

Identify the alleles

Alleles:
o IA IA – homozygous blood type A
o IB i – heterozygous blood type B
Determine the parental genotype
Genotype of the parents:
o IA IA – homozygous blood type A IA IA X IB i
o IB i – heterozygous blood type B
Segregation
IA IA X IB i

IA IA IB i

Punnett Square Results and Interpretation

Results:
IA IA o Phenotype – AB and A
IB IA IB IA IB o Genotype – IAIB, IAi
o Phenotypic Ratio – 2 : 2
i IA i IA i
o Genotypic Ratio – 2 : 2
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Exercise
Directions: Solve the following non-Mendelian genetic problems regarding a monohybrid cross presented below.
Determine the following: (1) alleles; (2) parental genotype; (3) segregation of alleles; (4) punnett square; (5) phenotype
and genotype of the offspring; and (6) phenotypic and genotypic ratio.

Problem 1: White wool color is incompletely dominant over black in sheeps. Suppose a
heterozygous white sheep mates with another heterozygous black sheep. Determine the
results of this cross.

Problem 2: In bears, both white fur color and black fur color is dominant. Suppose a
homozygous dominant white bear mates with a homozygous black bear. What will be the
results of this cross?

Problem 3: A man who has type O blood and a woman who is type AB could potentially
have offspring of what blood type/s?
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Lethal Alleles
In 1905, Lucien Cuénot observed unusual patterns when studying inheritance of a coat color gene in mice. After
mating two yellow mice, he observed that the offspring never showed a normal 3:1 phenotypic ratio. Instead, Cuénot always
observed a 2:1 ratio, with two yellow mice for every one non-yellow mouse. Cuénot thus determined that yellow coat color
was the dominant phenotypic trait, and by using test crosses, he showed that all his yellow mice were heterozygotes.
However, from his many crosses, Cuénot never produced a single homozygous yellow mouse. How could this
be?

 lethal alleles are alternatively referred to as lethal genes or lethals

 these are alleles that cause the death of the organism that
carries them; in a population and evolutionary sense though, lethal
genotype has a more specific meaning: it causes death before the
individual can reproduce, which prevents passage of his or her
genes onto the next generation
 usually a result of mutations in genes that are essential for
growth or development
 in humans, early-acting lethal alleles cause spontaneous abortion, technically called “miscarriages”
if they occur during the embryonic period
 examples of human diseases caused by recessive lethal alleles include cystic fibrosis, sickle-cell anemia,
and achondroplasia* (an autosomal dominant bone disorder that causes dwarfism; while the inheritance
of one achondroplasia allele can cause the disease, the inheritance of two recessive lethal alleles is fatal)

Epistasis
Mendel’s studies in pea plants implied that the sum of an individual’s phenotype was controlled by genes (or as he called
them, unit factors), such that every characteristic was distinctly and completely controlled by a single gene. In fact, single
observable characteristics are almost always under the influence of multiple genes (each with two or more alleles) acting
in unison. For example, at least eight genes contribute to eye color in humans.

 a form on non-Mendelian inheritance in which one gene is

capable of interfering with expression of another
 Epistasis is a word composed of Greek roots that mean “standing
upon”; the alleles that are being masked or silenced are said to
be hypostatic to the epistatic alleles that are doing the masking
 this is often found associated with gene pathways where the
expression of one gene is directly dependent on the presence or
absence of another gene product within the pathway
 an example of epistasis is pigmentation in mice: the wild-type coat
color, agouti (BB), is dominant to solid-colored fur (bb);
however, a separate gene (C) is necessary for
pigment production; a mouse with a recessive c allele at this
locus is unable to produce pigment and is albino regardless of the
allele present at locus A
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Penetrance and Expressivity

The same allele combination can produce different degrees of a phenotype in different individuals because
a gene does not act alone. Nutrition, exposure to toxins, other illnesses, and actions of other genes may influence the
expression of most genes. For example, two individuals who have the most severe genotype for cystic fibrosis may nonetheless
have different clinical experiences. One may be much sicker than the other because she also inherited genes predisposing
her to develop asthma and respiratory allergies.
Many Mendelian traits and illnesses have distinctive phenotypes, despite all these influences.

a. Penetrance
 refers to the all-or-none expression of a genotype
 used to describe whether or not there is a clinical expression of the genotype
in the individual
 the penetrance of a genotype is defined by the probability that a person
carrying it will present clinical manifestations
 a genotype which may or may not produce a clinical trait is said to be
incompletely penetrant
 ex: polydactyly* (from the Greek words: “poly”, which means many and
“dactylus”, which means digits or fingers; a condition in which a person is
born with extra fingers or toes)

b. Expressivity
 severity or extent of a genotype
 the term that describes the differences observed in the clinical
phenotype between two individuals with the same genotype
 the same molecular genotype may present differences in either the severity
of the same clinical phenotype or differences in the clinical presentation
 it is probable that in many cases the combined influence of genetic and
environmental factors leads to the difference in expressivity
 ex: a phenotype is variably expressive if symptoms may vary in intensity in
different people: one person with polydactyly might have an extra digit on
both hands and a foot, but another might have just one extra fingertip

Pleiotropy
 derived from two Greek terminologies: “pleio”, which means many; and “tropic”, which means affecting
 genes that affect multiple, apparently unrelated, phenotypes are thus called pleiotropic genes
 the phenotype includes many symptoms, with different subsets in different individuals (such conditions can
be difficult to trace through families because people with different subsets of symptoms may appear to have different
disorders)
 ex: porphyria variegate* (is an inherited disorder that is caused by mutations in the gene that lead to the
build-up of compounds normally involved in the body's production of heme, a major component of hemoglobin)
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Phenocopies
 is a variation in phenotype which is caused by environmental
conditions, such that the organism's phenotype matches a phenotype
which is determined by genetic factors
 an individual showing features characteristic of a genotype other than
its own, but produced environmentally rather than genetically
 ex: infections can be considered a phenocopy; children who have AIDS
may have parents who also have the disease, but these children
acquired AIDS by viral infection, not by inheriting a gene (a phenocopy
caused by a highly contagious infection can seem to be inherited if it
affects more than one family member)

Phocomelia is a rare congenital deformity in which the hands or feet

are attached close to the trunk, the limbs being grossly
underdeveloped or absent. This condition may either be inherited or a
side effect of the drug thalidomide taken during early pregnancy.
Image Ref: https://www.semanticscholar.org/paper/The-
phocomelia-thrombocytopenia-syndrome.-A-report-Pfeiffer-
Haneke/b61d418c3a02b6c6b68b13e6ef4d0268ee5f032f
/figure/0

Genetic Heterogeneity
 phenomenon in which different genes can produce the same
phenotype
 the production of the same or similar phenotypes (observed biochemical,
physiological, and morphological characteristics of a person determined
by his/her genotype) by different genetic mechanisms
 basically occurs when different genotypes are associated with the same
phenotype
 ex: hearing loss may be due to 132 different genes that follow
autosomal recessive inheritance
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References
 Lewis, R. (2008). Human Genetics: Concepts and Applications, Seventh Edition. McGraw-Hill International Edition. McGraw-
Hill Higher Education. United States.
 Online Links:
o https://www.nature.com/articles/gim2003356#:~:text=Penetrance%20is%20used%20to%20describe,individuals
%20with%20the%20same%20genotype.
o https://www.nature.com/scitable/topicpage/mendelian-ratios-and-lethal-genes-557/
o https://courses.lumenlearning.com/wm-biology1/chapter/reading-epistasis-2/
o https://www.nature.com/scitable/topicpage/pleiotropy-one-gene-can-affect-multiple-traits-569/
o https://psychology.wikia.org/wiki/Phenocopy
 Image Links:
o https://wall.alphacoders.com/big.php?i=838936
o https://thehappypuppysite.com/wp-content/uploads/2018/07/dalmatian-long.jpg
o https://upload.wikimedia.org/wikipedia/commons/5/57/09_11aIncompleteDominance-L.jpg
o https://blogs.ubc.ca/mrpletsch/files/2017/04/Screen-Shot-2017-04-03-at-6.27.07-PM.png
o https://www2.unil.ch/popgen/softwares/quantinemo/images/epistasis.jpg
o https://images.fridaymagazine.ae/1_2218224/imagesList_0/3504587818_main.jpg
o https://www.nature.com/articles/gim2003356#:~:text=Penetrance%20is%20used%20to%20describe,individuals
%20with%20the%20same%20genotype.
o https://journal.medizzy.com/wp-content/uploads/2020/02/toes-1.png
o https://www.semanticscholar.org/paper/The-phocomelia-thrombocytopenia-syndrome.-A-report-Pfeiffer-
Haneke/b61d418c3a02b6c6b68b13e6ef4d0268ee5f032f
o https://amac.us/wp-content/uploads/2012/07/amac-5-senses-min-500x333.jpg