Module 3

Mendelian Genetics
At the end of this module you are expected to:
1. Define basic terminologies used Mendelian genetics;
2. Understand the principles of the Law of Segregation and Law of Independent
Assortment;
3. Learn to use the Punnett square;
4. Appreciate the importance of Mendelian genetics in our daily lives.

Mendelian Genetics
A. The basic rules of inheritance were first demonstrated by Mendel
o at the time of Mendel’s work, most thought that parental traits were fluids
that “blend” in offspring
o Mendel recognized that this model did not explain what he observed
o Mendel chose a model system and carefully established testing conditions
 he used pea plants that he could outcross or allow to self-fertilize
 he chose traits that had two clear possible outcomes (yellow or green
seeds, etc.)
 he established true-breeding or “pure” lines to use for genetic
crosses
o terminology for genetic crosses
 P generation (or P1) = parental generation
 F1 generation = first generation offspring (from filial)
 F2 generation = second generation offspring
 phenotype – appearance or characteristic of an organism
 genotype – genetic makeup of an organism, determines phenotype
 gene – unit of heredity; controls a trait that determines a phenotype
 locus – the location of a particular gene on a chromosome
 alleles – alternative versions of a gene
 dominant – allele that dominates over others in determining
phenotype
 recessive – allele whose phenotypic expression is “hidden” when a
dominant allele is present
 hybrid – offspring from a cross between two “pure” lines of different,
competing phenotypes

B. Rules and terminology for examination of genetic inheritance

 Mendel’s law of segregation
o when Mendel crossed pure lines of different, competing phenotypes, he
found that the F1 generation was uniform and matched one of the
parents’ phenotypes
 example: P1 yellow seed X green seed  all F1 yellow seed
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 o when F1 plants were crossed or selfed, the F2 plants had both P1
phenotypes in a ratio of roughly 3:1
 using offspring from above F1 X F1  F2 3 yellow seed: 1 green
seed
o thus, contrary to the popular belief of the time, recessive traits are not
lost in a mixing of parental phenotypes – they are merely hidden in some
“carrier” individuals
o Mendel explained these ratios with what we now call his law of
segregation; stated in modern terms: individuals normally carry two
alleles for each gene, these alleles must segregate in production of sex
cells
o later investigations of cell division revealed the mechanism for
segregation: the pairing and subsequent separation of homologous
chromosomes during meiosis

 Genotype vs. Phenotype

o phenotype is the actual appearance or characteristic, and is determined
by genotype; knowing the phenotype will not always directly reveal the
genotype (recessive traits can be masked)
o genotype is the listing of the actual alleles present; if you know the
genotype, you should be able to predict the phenotype
o genotypes are either homozygous or heterozygous
 homozygous – the homologous chromosomes have the same
allele at the locus in question
 heterozygous – the homologous chromosomes have different
alleles at the locus; if there is a dominant allele the trait of the
dominant allele will be expressed
o the same letter is used to indicate all alleles (superscripts or subscripts
are sometimes needed, if there are more than 2 alleles known)
o DOMINANT ALLELES ARE CAPITALIZED; recessive alleles are
lowercase

 Rules of probability govern genetic inheritance

o the likelihood of a sex cell carrying a particular allele is determined by
probability, its expected frequency of occurrence (expressed in fractions,
decimal fractions, percentages, or ratios)
o the combination of sex cells to form a zygote is generally ruled by
probability as well
o thus, the rules of probability govern genetics
o product rule – when independent but not mutually exclusive events are
combined, you multiply their individual probabilities to get the overall
probability of the result (genetic crosses, X, are multiplications of
probabilities)

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 o sum rule – if there is more than one way to obtain a result (mutually
exclusive events), you add their individual probabilities to get the overall
probability of the result
 the sum of all possibilities is one (no more, no less)

 Punnett square – way of diagramming genetic crosses that uses the laws of
probability

 More terminology
o Test cross – mating an individual that has the dominant phenotype for
a trait with an individual with the recessive phenotype; this often will
reveal the genotype of the
dominant parent, or at least give
some idea of the probably
genotype

o Monohybrid cross – cross

between individuals that are
both heterozygous for the gene
that you are following; note that
these give a 3:1 phenotype ratio
and a 1:2:1 genotype ratio

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C. Expanding the rules and terminology to follow
two (or more) genes in a cross

 Law of independent assortment

o dihybrid cross – cross between
individuals that are both heterozygous
for two different genes that you are
following
o when Mendel performed dihybrid
crosses, he found phenotype ratios of
9:3:3:1, which is explained by the
product rule
o this led to Mendel’s law of independent
assortment: segregation of any one pair
of alleles is independent of the
segregation of other pairs of alleles
o we now know that this is also a
consequence of events in meiosis
o this doesn’t hold perfectly true for all
genes

 Genetic linkage – independent assortment

does not always occur
o independent segregation of chromosomes during meiosis I leads to
independent assortment
o independent assortment can lead to recombination
 recombination – any process that leads to combinations of
genotypes not seen in the parents
 recombinant gametes – gametes that display a recombinant
genotype
 recombinant offspring – offspring whose phenotype reveals that
they inherited genes from a recombinant gamete

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o genes that are on the
same chromosome
may not sort
independently; such
genes are said to be
linked
o genetic maps of
chromosomes
 percentage of
crossing over
or
recombination
is calculated
from 100 times
the number of recombinant offspring divided by the total number of
offspring
 map unit – by convention, one map unit = 1% recombination (the
term cM or centiMorgan is sometimes used for map units, in honor
of a pioneer in gene mapping)
 map distances between
genes on the same
chromosome are
measured in map units
 linkage group = all genes
on a particular
chromosome; tend to be
inherited together
 placement of a gene into
a position in a linkage
group is genetic
mapping
 map distances get less
meaningful as they get large
 as genes get further apart, the odds of multiple crossing over
events between them increase
 when distances approach 50 map units, the genes appear
essentially unlinked
 many chromosomes have an overall map length of well over
50 map units
 genetic maps are useful in locating the actual physical location of
genes

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Beyond simple genetics: Exceptions of Mendelian Genetics
 We have already seen that modifications must be made to Mendel’s laws for
linked genes; there are other situations that do not fit the “simple” cases that
Mendel used

 incomplete dominance – the

heterozygote has a phenotype that is
intermediate between the two
homozygous states
o really, the term dominance has no
true meaning here
o example: black, blue, and white
Andalusian chicken
o
 codominance – the heterozygote
expresses characteristics of both alleles;
very much like incomplete dominance
o not an intermediate form, instead you see each allele distinctly expressed
o roan cattle, expressing both red
and white hairs, are a good example (the
difference between incomplete
dominance and codominance is
essentially a case of splitting hairs)
o one of the best examples is the
ABO human blood type

 multiple alleles – it is very common for

there to be more than two allele types for
a given locus; any time there are three or
more alleles types involved, we say that
there are multiple alleles
o dominance relationships can vary between multiple alleles
o example: rabbit coat color is influenced by
a gene that has four known alleles
o example: human ABO blood types
o the main blood type is determined by a
single locus with three known alleles (IA,
I B , i O)
o IA and IB alleles are codominant with
respect to each other

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  the IA allele leads to the expression of type A antigen on the surface of
red blood cells
 the IB allele leads to the expression of type B antigen on the surface of
red blood cells
o  i is a recessive allele; the iO allele does not lead to expression of a cell
O

surface antigen
o resulting blood types:
 IAIA or IAiO genotype
produce only the A
antigen; blood type A
 IBIB or IBiO genotype
produce only the B
antigen; blood type B
 I A IB genotype
produces both the A
antigen and B
antigen; blood type
AB
 iOiO genotype produces no A or B antigens; blood type O
o blood transfusions (or any transplants) must be of the appropriate type,
because the blood of individuals contains antibodies against the antigens
not contained on its red blood cells
 thus, type O can only accept type O blood or organs
 type AB can accept any type blood or organs (A, B, AB or O); etc.
 there are other blood type factors, such as Rh factor, that must be
taken into account
o blood type is used in paternity or maternity cases only as a means to rule
out possible parents
o the other key component tested for human blood typing is the Rh factor
 while there are actually several Rh factors, one (antigen D) is most
commonly tested and referred to as the Rh factor; most Americans are
Rh+
 expression of antigen D on red blood cell surfaces is controlled by a
single gene; the dominant phenotype leads to expression of the
antigen (recessive = no expression)
 inheritance of the Rh factor is thus described by classical Mendelian
inheritance; if you express the dominant phenotype, you are Rh+; if
you are Rh-, then you are homozygous recessive for the gene
controlling the factor
 someone who is Rh- should not be given Rh+ blood or organs,
because they will develop antibodies to antigen D and reject the blood
or organs

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  the Rh factor can cause complications during pregnancy (something
not seen with the ABO blood group)
 there are other blood typings and tissue matchings that are done, but
the ABO/Rh blood typing is the one most commonly used (for example,
ABO/Rh is usually all that matters for blood donation or reception
***One gene, many phenotypes
Pleiotropy: one gene, many phenotypes
 one gene affects more than one characteristic
 usually only one gene product is directly involved, and its status affects many
things
 many disease genes are pleiotropic (examples, cystic fibrosis, sickle cell
anemia)

 Pleiotropy is the expression of multiple traits by a single gene.

 Gene pleiotropy is focused on the number of traits and biochemical factors

impacted by a gene.

 Developmental pleiotropy is focused on mutations and their influence on

multiple traits.

 Selectional pleiotropy is focused on the number of separate fitness

components affected by a gene mutation.

 Antagonistic pleiotropy is focused on the prevalence of gene mutations that

have advantages early in life and disadvantages later in life.

 Pleiotropy Examples
 An example of pleiotropy
that occurs in humans
is sickle cell disease.

o Sickle cell
disorder results
from the
development of
abnormally
shaped red blood
cells.
o Normal red blood
cells have a
biconcave, disc-

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 like shape and contain enormous amounts of a protein called
hemoglobin.
o Hemoglobin helps red blood cells bind to and transport oxygen to
cells and tissues of the body.
o Sickle cell is a result of a mutation in the beta-globin gene.
o This mutation results in red blood cells that are sickle-shaped, which
causes them to clump together and become stuck in blood vessels,
blocking normal blood flow.
o The single mutation of the beta-globin gene results in various health
complications and causes damage to multiple organs including
the heart, brain, and lungs.

 The frizzled feather trait is an

example of pleiotropy seen in chickens.
 Chickens with this particular mutated
feather gene display feathers that curl
outward as opposed to lying flat.
 In addition to curled feathers, other
pleiotropic effects include a faster
metabolism and enlarged organs.
 The curling of the feathers leads to a
loss of body heat requiring a faster
basal metabolism to maintain
homeostasis.

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  Other biological changes include higher food consumption, infertility, and
sexual maturation delays.

***One phenotype, many genes: gene interactions, epistasis, and polygenic inheritance.

 Gene interactions – two or more genes interact to produce a novel phenotype

o examples: rooster combs; coat color in Labrador retrievers
o hallmark of gene interactions: exactly 4 phenotypes are found, and
certain crosses will produce a 9:3:3:1 phenotype ratio in offspring
(thus indicating that they are dihybrid crosses)

 Epistasis – one gene influences the phenotype that a second gene usually
controls, masking any effects of alleles at the second gene; the name literally
means “stopping” or “standing upon”
o example: albinism is generally epistatic
o spot epistasis by modification of dihybrid cross results, getting ratios
like 9:7 or 9:3:4 instead of 9:3:3:1

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  Polygenic inheritance – multiple, independent genes have similar, additive
effects on a characteristic
o examples include height and skin color in humans
o most economically important traits are polygenic (cow milk
production, cattle weight, corn crop yield, etc.)
o polygenic traits don’t fall easily into distinct categories; instead, they
usually are measured traits (quantitative traits)
o when plotted out for a population, polygenic traits produce a normal
distribution curve if mating is random with respect to the trait
o Note that genotype is not the only basis for phenotype – environment
can have a major impact on what phenotype is seen for some traits

D. Do all of these exceptions invalidate Mendel’s laws?

1. No. Mendel’s laws explain the basic situation, and all of these exceptions are
best understood in light of the mechanisms that Mendel described. Scientists
generally try to understand simple cases before moving on to the more baffling
ones, and often (as here) understanding the simpler cases helps form the basis
for understanding the more complicated ones.

2. However, it is important to know about these “exceptions” and apparent

exceptions, because most genetic inheritance has some aspect of at least one
of these “exceptions” in it.

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Learning Activity 3

Question:

In rabbits, white fur (W) is dominant to black

(w), and long ears (E) are dominant to short
ears (e).
A breeder mates two rabbits that are
heterozygous (WwEe) for both traits.
1. What is the chance that the
offspring will be black with long
ears?
a. Show your solution by utilizing
a Punnett square.

2. What are the genotypic and

phenotypic ratio of such mating?

Guide Questions 3

1. What is the Mendelian Law of Segration?

2. What is the Mendelian Law of Independent Assortment?
3. How can Mendelian rules of inheritance be applied in our daily lives?

Answer to Guide Questions 3

Question 1: Mendel's Law of Segregation states that every organism has two alleles per
trait and that these alleles separate during meiosis, so each gamete gets one allele.

Question 2: Mendel's Law of independent assortment states that the alleles of two (or
more) different genes get sorted into gametes independently of one another.

Question 3: Mendelian inheritance refers to the kind of inheritance you can understand
more simply as the consequence of a single gene. So, in human genetics, for instance,
when you look at a condition like Huntington's disease, and you see that it follows this
pattern where an affected person who passes that to a child, the child has a 50 percent
chance of being infected. That is dominant Mendelian inheritance. Hemophilia, where you
see a condition where the female seems to be unaffected but there's X-linked inheritance,
that's also Mendelian. Or cystic fibrosis, where it's autosomal recessive, you can model
that also by Mendel's rules of the consequence of a single gene.

- Francis S. Collins, M.D., Ph.D.

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Key points

1. The basic rules of inheritance were first demonstrated by Mendel and now referred
to as Mendelian genetics.

2. Mendel's Law of Segregation states that every organism has two alleles per trait
and that these alleles separate during meiosis, so each gamete gets one allele.

3. Mendel's Law of independent assortment states that the alleles of two (or more)
different genes get sorted into gametes independently of one another.

4. Phenotype is the actual appearance or characteristic, and is determined by

genotype; knowing the phenotype will not always directly reveal the genotype
(recessive traits can be masked) while genotype is the listing of the actual alleles
present; if you know the genotype.

5. Genotypes are either homozygous or heterozygous. Homozygous genes contain

homologous chromosomes having the same allele at the locus in question while
heterozygous genes containing homologous chromosomes having different
alleles at the locus.

6. Punnett square is way of diagramming genetic crosses that uses the laws of
probability

7. Test cross is mating an individual that has the dominant phenotype for a trait with
an individual with the recessive phenotype; this often will reveal the genotype of
the dominant parent, or at least give some idea of the probably genotype.

8. Monohybrid cross is crossing between individuals that are both heterozygous for
the gene that you are following; note that these give a 3:1 phenotype ratio and a
1:2:1 genotype ratio while a dihybrid cross is crossing between individuals that
are both heterozygous for two different genes that you are following.
9. Genetic linkage is a phenomenon in breeding where independent assortment
does not always occur.

10. Incomplete dominance is a condition wherein the heterozygote has a phenotype

that is intermediate between the two homozygous states while codominance is a
condition wherein the heterozygote expresses characteristics of both alleles.

11. Multiple alleles a condition of having more than two allele types for a given locus.

12. Pleiotropy occurs when one gene influence two or more seemingly unrelated
phenotypic traits.

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References and Supplementary Materials

Books

1. van der Waaij, K. (2014). Textbook Animal Breeding: Animal Breeding and
Genetics for BSc Students: Centre for Genetic Resources and Animal Breeding
and Genomics Group, Wageningen University and Research Centre, the
Netherlands

Online Supplementary Reading Material

1. ABO Blood Group; https://sites.google.com/site/biology; Retrieved July 10, 2020

2. Difference Between Codominance and Multiple Alleles;

https://www.differencebetween.com/; Retrieved July 10, 2020

3. Genetic Map; https://www.genome.gov/genetics-glossary/Genetic-Map; Retrieved

July 10, 2020

4. Incomplete Dominance; https://socratic.org/questions; Retrieved July 10, 2020

5. Linked and Unliked Genes; https://ib.bioninja.com.au/; Retrieved July 10, 2020

6. Mendelian Inheritance; https://www.genome.gov/genetics-glossary/Mendelian-

Inheritance; Retrieved July 10, 2020

7. Pleiotropy; https://www.thoughtco.com/pleiotropy-definition-4687155; Retrieved

July 10, 2020

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