Chapter 12: Patterns of

inheritance
1. The Mystery of Heredity:
1.1. Heredity Before the 20th Century: Prior to the twentieth century the concept of
inheritance was viewed to be correlated to fluids and most prominently blood. It was
supposed that the mixing of two different bloods gave offspring with new characteristics.
The concept is highly represented through the usage of the term “bloodlines”. This concept
led to a paradoxical perspective in a manner such that mixing “pure bloodlines” yielded
individuals with varying characteristics even though no variation entered a specie from the
outside and the existing variations blend with one another should provide the same
appearance.
1.2. Early Plant Biologists Produced Hybrids with Puzzling Results: The first
experimental hybridization was done by Josef Kölreuter, in 1760, through crossing
different stands of tobacco and obtained fertile offsprings. When these offsprings were
crossed with each other, a large variety of second generation offsprings. Some of the
second generation offsprings resembled their parents, while others resembled the original
strains. Such results were contradictory to the previous theory of direct transmission. The
birth of modern genetics was brought then by Josef Kölreuter. The concept of modern
genetics was then advanced by T.A. Knight who crossed two varieties of garden peas,
Pisum Sativa, in 1823. In order for Knight to reach conclusive data, the strains he used
were used were true-breeding strains. True-breeding strains are strains where the
offsprings produced from self-fertilization within a single strain remain the same
throughout generations. Knight observed that the first generation of the two varieties
resembled only one parent strain, while the second generation represented both the original
parents in varying quantity. This gave rise to the concept of segregation which is defined
as the ability for offsprings to represent some traits from the first parent and others from the
next. It is segregation that led Gregor Mendel to reach his understanding of the nature of
heredity.
1.3. Mendel Quantifying the Results of his Crossing: Mendel chose to go with pea
plants, similar to Knight, for his experiment for a number of reasons which include:
1. Previous tests indicated that segregation is possible among the offsprings of Pea Plants.
2. A large number of pure pea varieties were present. Mendel studied up to 34 and then
chose 7 that could be easily distinguishable from one another.
3. The generation time of peas was quite short which made them easy to grow and they
are characterized to be small.
4. Both male and female sexual organs are present in each pea flower and is able to
undergo self-fertilization or cross-fertilization.
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 1.4. Mendel’s Experimental Design: Mendel’s experimental method is known to consist
of three stages in order to ensure that his focus on certain visible characteristics is not
deferred. As such, he utilized certain experimental stages which are:
1. Mass Production and Confirmation: Using Self-Cross, Mendel produced a mass
amount of certain breeds to ensure that the breeding strain of certain characteristics is a
true-breeding strain with a trait that does not vary from one generation to another
2. Cross Fertilization: Following the mass production and confirmation of true-breeding
strands, Mendel came to cross true-breeding varieties to check alternative forms of
traits. Mendel did not stop with cross-breeding, but to further assess his conclusion he
performed reciprocal crosses. Mendel performed reciprocal crosses by using pollen
from a white- flowered plant to fertilize a purple-flowered plant, then using pollen from
a purple-flowered plant to fertilize a white-flowered plant.
3. Hybrid Offspring Self-Fertilization: Mendel permitted the hybrid offsprings to self-
cross for several generations to check the ratio of inheritance of alternative forms of
traits. Each exhibited trait was counted and accounted for by Mendel.
When Mendel counted the number of offsprings with exhibited traits, he established the
quantitative nature of his research which was able to distinguish the previous qualitative
research. Mendel’s mathematical analysis gave rise to the formation of an inheritance model
that is still used to this day.
1.5.Diagram of How Mendel Conducted his Experiment:

The cross fertilization yields all hybrid seeds that

give rise to purple flowers. Using pollen from a
purple flower to fertilize a white flower all gave the
same result.
- The male anther contains pollen grains, which give
rise to haploid sperm
- The female carpel contains ovules, which give rise
to haploid eggs.
- The stigma (plural: stigmas or stigmata) is the
receptive tip of a carpel
- The style is a narrow upward extension of the
ovary.
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2. Monohybrid Cross: The Principle of Segregation:
2.1. Definition of a Monohybrid Cross: A monohybrid cross is defined to be a cross
that traces a single trait across two variations. The monohybrid cross could be between two
colors, red and white, or two sizes, small and long, or a certain trait with two different
perceivable characteristics. Mendel seven characteristics, each with two variants that were
easily distinguished. These characteristics are the peas’ flower color, seed color, seed
texture, pod color, pod shape, flower position, plant height.
2.2. F1 Generation Exhibits One of Two Traits with No Blending: Contrary to
what the hypothesis of blending inheritance, when Mendel crossed a white flower pea with
a purple flower pea he observed that the all of the offsprings had a flower color resembling
one of the parents. When these flowers were crossed, they produced all the offsprings with
purple flower. This offspring generation is called the first filial generation, also referred
as F1. The characteristic expressed in the F1 plants was perceived to be dominant and that
that was not expressed in F1 plants was denoted to be recessive. The case of dominance
and recessive was expressed through all of the seven traits tested by Mendel.
2.3. The F2 Generation Exhibits a 3:1 Ratio: After the first filial generation was
matured, Mendel crossed them through self-fertilization to test what the second filial
generation, F2, would look like. Mendel found out that although the recessive white
flower was hidden in F1, it appeared in some plants in the F2 plants. As Mendel’s study is
distinguished for its quantitative nature, Mendel found out that, for the F2 plants, 75.9% of
the plants expressed the dominant allele with 24.1% of plants expressing the recessive
white allele. Of the F2 individuals, 3/4 exhibited the dominant form, and 1/4 displayed the
recessive form for each trait. As such, the ratio of dominant to recessive was at a 3:1.
2.4. Mendel’s Seven Traits and their Ratios:

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 2.5. F2 Generation is Disguised as a 1:2:1 Ratio Rather than 3 to 1: Mendel
wished to discover truly the nature of the F2 plants and how they pass their traits to
subsequent generations. Mendel realized that the plants exhibiting a recessive
characteristic always possessed true-breeding strains. Similarly was the case for 1/3 of
the dominant purple flower, which amounts to a quarter of the total plants. Nonetheless,
the remaining 1/2 of all plants, whom possessed a dominant characteristic, were not true-
breeding. This result suggested that, for the entire sample, the 3:1 ratio that Mendel
observed in the F2 generation was really a disguised 1:2:1 ratio: 1/4 true-breeding dominant
individuals, 1/2 not-true-breeding dominant individuals, and 1/4 true-breeding recessive
individuals.
2.6. Diagram of How F2 Generation is Disguised:

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 2.7. Mendel’s Derived Principles: Mendel derived what amounted to four principles
from his experiment about the nature of heredity which are:
1. The plants he crossed did not produce progeny of intermediate appearance,
as a hypothesis of blending inheritance would have predicted. Instead,
different plants inherited each trait intact, as a discrete characteristic.
2. For each pair of alternative forms of a trait, one alternative was not
expressed in the F1 hybrids, although it reappeared in some F2 individuals.
The form of the trait that “disappeared” must be present, but not expressed
in the F2 individuals.
3. The alternative forms of traits examined were segregated among the
progeny of a particular cross, some individuals exhibiting one form of the
trait and some the other.
4. These alternative forms of traits appear in the F2 generation in the ratio of
3/4
dominant to 1/4 recessive. This characteristic 3:1 segregation is referred
to as the Mendelian ratio for a monohybrid cross.
2.8. Mendel’s Five Element Model: Mendel results can be explained through a model
that has stood the test of time which can be summarized as follows:
1. Parents are only able to transport factors that are in the form of discrete information
rather than transmit traits. The modernized name for factors is prescribed to be genes.
2. Each individual receives one copy of a gene from each parent.
3. Not all copies of genes are identical. Genes with alternative forms are called alleles.
The presence of a homozygous individual is said to indicate that the individual has
the same gene on both haploid gametes. The presence of a heterozygous individual is
said to indicate that the individual has received two alleles that differ from one another
from the haploid gametes that form the zygote.
4. The alleles remain discrete and are unable to blend with one another or even alter one
another. This leads to the segregation of alleles randomly across the gametes of the
mature individual.
5. The presence of certain allele does not implicate that it will be expressed. This is
clearly expressed in heterozygous individuals as they express only one allele, the
dominant allele, and leave the recessive allele as suppressed.
2.9. Modern Genetic Definitions: Modern genetics now refers to the total sets of alleles
an individual possesses as the genotype. The allele’s expression in terms of physical
appearances and characteristics is called an individual’s phenotype. The genotype and the
phenotype lie in an interconnected relation such that the genotype codes for the phenotype.
2.10.Principle of Segregation: Mendel’s principle of segregation is strictly related to the
allele’s separation during haploid gamete formation and their random rejoining during
fertilization. The principle of Segregation can be stated as nothing less than: The two
alleles for a gene segregate during gamete formation and are rejoined at random, one

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 from each par- ent, during fertilization. It is to be noted that even though Mandal had no
knowledge of the cellular mechanism of inheritance, he was able to arrive at a correct
scheme.
2.11.The Punnet Square Allows Symbolic Analysis: Named after its originator R.C.
Punnet, the punnet square sets certain symbols to different types of alleles to reach a
conclusion that is similar to Mendel’s, yet more structured, and analyzes it. The dominant
allele is normally expressed with an upper case letter, while the recessive allele is
expressed with a lower case letter.

Each true-breeding parent makes only one type of gamete.

F1 are all purple heterozygotes. F1 individuals make two types of

gametes and produce three kinds of F2 offspring:

• PP homozygous dominant (purple).

• Pp heterozygous (also purple).

• pp homozygous recessive (white).

2.12. Some Human Traits Express a Dominant/Recessive Inheritance: Similar

to how peas possess dominant and recessive alleles, humans were found to possess the
same thing. However, scientists cannot control human crossing the way Mendel was able
to control peas crossing. This leads to geneticists studying crosses that has already
happened, also known as family histories. The method used to truly infer the inheritance
of a particular trait is known to be the pedigree. A pedigree is defined to be a consistent
graphical representation of matings and offspring over multiple generations for a
particular trait. In analyzing these pedigrees, it is important to realize that disease-causing
alleles are usually quite rare in the general population.

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 2.12.1.Dominant Pedigree for Hereditary Juvenile Glaucoma: One of the
most extensively used pedigrees is for the hereditary disease Juvenile Glaucoma. The
pedigree has been traced to as early as 1945. The disease is known to cause the
degeneration of the optic nerve leading to blindness. The disease is also known to be
dominant due to it being expressed in every generation which is highly unlikely for
recessive traits due to the need for large numbers of unrelated individuals to carry the
disease.

2.12.2.Recessive Pedigree for Albinism: One form of albinism is due to a

nonfunctioning allele of the enzyme tyrosinase which is required for the formation of
Melanin pigment. The genetic characteristics of this form of albinism are: Females
and males are affected equally, most affected individuals have unaffected parents, a
single affected parent usually does not have affected offspring, and affected offspring
are more frequent when parents are related. All of these characteristics fit a recessive
mode of inheritance.

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3. Dihybrid Crosses: The Principle of Independent
Assortment:
3.1. Definition: As previously mentioned, the principle of segregation explains the behavior
of alternative alleles of a single trait in monohybrid crosses. The concept of dihybrid
crosses is to take this process further through examining two separate traits in a single
cross. Mendel after analyzing the behavior of single traits went on to ask whether different
traits act in hybrids or independently. He first established a series of true-breeding lines of
peas that differed in two of the seven characters he had studied. He then crossed contrasting
pairs of the true-breeding lines to create heterozygotes. These heterozygotes are now
doubly heterozygous, or dihybrid. Finally, he self-crossed the dihybrid F1 plants to produce
an F2 generation, and counted all progeny types.
3.2. Traits in Dihybrid Cross Behave Independently: If we consider a cross
involving seed shaped alleles where rounded is denoted by R and wrinkled is denoted by r
and different seed color alleles such that yellow is denoted by Y and green with y. The
crossing of a round yellow (RR YY) pea with a wrinkled green (rr yy) produced the first
filial generation as a heterozygous with a phenotype of round yellow and a genotype of Rr
Yy. The F1 generation self-crosses to produce the second filial generation F2.
3.3. The F2 Generation Exhibits Four Types of Progeny in a 9:3:3:1 Ratio:
Upon self-fertilizing F1, we expect to see the two parental phenotypes: round yellow and
wrinkled green. If the traits behave independently, then we can also expect one trait from
each parent to produce plants with round green seeds and others with wrinkled yellow
seeds. In F1 self-fertilizing, we expect the two types of gametes found in the parents: RY
and ry. If the traits behave independently, then we can also expect the gametes Ry and rY.
We conclude that two genes each with two alleles can be combined four ways to produce
these gametes: RY, ry, Ry, and rY.
3.4. A Dihybrid Punnet Square: Upon analysis, we realize the potential genotype of the
F2 plants, that being RY, ry, Ry, and rY, which indicates that the expected punnet square is
to be of sixteen possible outcomes. These outcomes arise from multiplying the four
possible genotypes of the female with that of the male. Filling in the Punnett square
produces all possible offspring. From this we can see that there are 9 round yellow, 3
wrinkled yellow, 3 round green, and 1 wrinkled green. This predicts a phenotypic ratio of
9:3:3:1 for traits that behave independently.
3.5. Principle of Independent Assortment: The principle indicates that in dihybrid
crossing, the alleles of each gene assort independently from the other. This can also be
stated simply: In a dihybrid cross, the alleles of each gene assort independently. A more
precise statement would be this: The segregation of different allele pairs is independent.
This statement closely ties independent assortment to the behavior of chromosomes during
meiosis. The independent alignment of different homologous chromosome pairs during
metaphase I leads to the independent segregation of the different allele pairs.

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 3.6. Diagram of Mendel’s Thoroughly Analyzed Dihybrid Experiment:

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4. Probability: Predicting the Results of Crosses:
4.1. Introduction: Probability allows geneticists to predict how likely the outcome of
random events is to occur. The reason why we are able to use probability is the independent
nature of chromosomal separation during meiosis. The probability for any event lies within
the domain zero and one such that the probability of a sure event is equal to one and the
probability of something never happening is equal to zero. Similarly, it should be noted that
the probability of every single gamete is 1/2 since there is only one in two options for an
allele, recessive or dominant.
4.2. Two Probability Rules Help Predict Monohybrid Cross Results: Prior to
going into the rules, a distinction between mutually exclusive and independent is to be
made. Mutually exclusive events occur when the events cannot happen at the same time.
Either A occurs or B but not both at the same time. As for independent events, it is when
two separate probabilities are done each being independent from the other. An example
would be two coin flips that are consecutive. Each coin flip has results independent from
the other.
4.2.1.The Rule of Addition: The rule describes that the probability of two mutually
exclusive events occurring is the sum of the individual probabilities.
4.2.2.Rule of Multiplication: The rule describes that the probability of two
independent events both occurring is the product of the individual probabilities.
5. The Test Cross: Revealing Unknown Genotypes:
5.1. Definition: Mendel was able to create a powerful method to derive the genotype of a
certain phenotype. The process of a test-cross is done through crossing the individual with
unknown genotype with a pure recessive individual. The contribution of the recessive
individual could be ignored due to them being fully recessive. However, the ratio of the
offsprings matter and whether recessive looking offsprings appear to distinguish whether
the unknown individual is heterozygous or homozygous.

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6. Extensions to Mendel:
6.1. Inconclusive Nature of Mendel’s Findings Post His Death: After Mendel’s
death, Mendel’s ideas were rediscovered and tested. The simple ratio Mendel reached was
complicated to reach by scientists who were trying to test whether his findings are
accurate.The reason behind such a difficulty is the traits they were studying. The fact
remains that Mendel’s assumptions were oversimplifications. Mendel claims that each trait
is controlled by a single gene, each gene has only two alleles, and there is a clear dominant-
recessive relationship between alleles.
6.2. In Polygenic Inheritance, Traits Affect More than One Gene: It is to be
noted that most of the phenotypes do not reflect two state cases. For instance, most species,
including humans, height varies over a continuous range, rather than having discrete
values. This continuous distribution of a phenotype has a simple genetic explanation: More
than one gene is at work. This mode of inheritance is called a polygenic inheritance.
When multiple genes act jointly to influence a character, such as height or weight, the
character often shows a range of small differences. When these genes segregate
independently, a gradation in the degree of difference can be observed when a group
consisting of many individuals is examined. We call this gradation continuous variation,
and we call such traits quantitative traits. Human height is a prominent example of a
continuous variation.

6.3. In Pleiotropy, a Single Gene Can Affect More than One Trait: Not only can
one gene affect a single gene, but a single gene is able to affect more than one trait. An
allele that has more than one effect is said to be pleiotropy. A pleiotropic allele may be

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 dominant to one phenotypic trait but recessive to another. Pleiotropic effects are difficult to
predict, because a gene that affects one trait often per- forms other, unknown functions.
Examples of Pleiotropy would be:
1. Cystic Fibrosis: It is a hereditary disorder in which a mutation disables a vital
protein that moves ions across cell membranes. This leads to abnormal gland secretion
(thicker than normal mucus) and causes both liver degeneration and lung failure.

2. Sickle Cell Anemia: A hereditary disorder producing defective hemoglobin that

causes red blood cells to curve and stick together. Sickle cell hemoglobin molecules
tend to aggregate, forming rodlike structures that distort red blood cells and reduce
their ability to transport oxygen. These red blood cells have a characteristic shape that
led to the name “sickle cell”.

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 6.4. Genes May Have Multiple Alleles: Within a certain population, multiple alleles
could exist to produce differentiated phenotypic properties. The prominent example of such
a case would be the ABO blood type in humans which is governed by three alleles. Even
though blood type is governed by three alleles, each individual can only have two alleles. If
a gene is considered as a sequence of nucleotides in a DNA molecule, then the number of
possible alleles is huge because even a single nucleotide change could produce a new
allele. The case differs in reality as the number of alleles possible for any gene is
constrained, but usually more than two alleles exist for any gene in an outbreeding
population.
6.5. Dominance is Not Always Complete: Mendel’s idea of recessive and dominant
traits is quite difficult to explain in terms of biochemistry and not quite all-inclusive as first
thought to be. The fact remains that there are two states of dominance that were neglected
which are:
1. Incomplete Dominance: In incomplete dominance, the phenotype of the
heterozygote is intermediate between the two homozygotes. A prominent example was
presented when crossing a red-flower with a white-flower Japanese lilies which
produced a new phenotype that lies as an intermediate between the two
homozygotes.when two of the F1 pink flowers are crossed, they produce red-, pink-,
and white-flowered plants in a 1:2:1 ratio. In this case the phenotypic ratio is the same
as the genotypic ratio because all three genotypes can be distinguished.

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 2. Co-Dominance: Most genes in a population possess several different alleles, and
often no single allele is dominant; instead, each allele has its own effect, and the
heterozygote shows some aspect of the phenotype of both homozygotes. The alleles are
said to be co-dominant.

6.6. Human ABO Blood Groups Illustrate Both Codominance and Multiple
Alleles: The gene that determines ABO blood types encodes an enzyme that adds sugar
molecules to proteins on the surface of red blood cells. These sugars act as recognition
markers for the immune system. The gene that encodes the enzyme, designated I, has three
common alleles: IA , whose product adds galactosamine; IB , whose product adds galactose;
and i, which codes for a protein that does not add a sugar. The different combinations of
the three alleles produce four different phenotypes from six genotypes since IB and IA are
dominant to i but codominant to one another.

6.7. Environment Affecting Phenotype: Mendel assumed that the environment had no
effect whatsoever on the phenotypic representation of genotypes. Mendel was wrong to
only assume that the environment had no effect. It should be noted that environmental
effects are not limited to the external environment. For example, the alleles of some genes
encode heat-sensitive products that are affected by differences in internal body

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 temperature. The ch allele in Siamese cats encodes a heat-sensitive version of the enzyme
tyrosinase. The enzyme is usually active when the temperature is below 33ºC.

6.8. In Epistasis, Interaction of Genes Alter Genetic Ratios: The last overly simple
assumption in Mendel’s model is that the products of genes do not interact. In fact, the
product of one gene may influence the products of other genes. Behavior of gene products
can change the ratio expected by independent assortment, even if the genes are on different
chromosomes that do exhibit independent assortment. Epistatic interactions produce a
variety of ratios, all of which are modified versions of 9:3:3:1. The resulting phenotypic
ratio will depend on the type of interaction of the two genes.
6.9. Conditions of Epistasis: For epistasis to occur, there must exist one of four potential
conditions:
1. One gene affects the phenotype of another gene due to interaction of their gene
products.
2. Expression of a gene at one locus alters the expression of a gene at a second locus.
3. 2 genes encode proteins that participate in a sequence in a biochemical pathway.
4. One gene can mask the expression of the other.
6.10.Example of Epistasis: An example comes from the analysis of corn, Zea mays. Some
commercial varieties exhibit a purple pigment called anthocyanin in their seed coats,
whereas others do not. In 1918, geneticist R. A. Emerson crossed two true-breeding corn
varieties, each lacking anthocyanin pigment. If this was a simple Mendelian trait, colored
versus colorless seeds, we would expect colorless seeds, but instead, all of the F1 plants
produced purple seeds. Emerson then crossed two of the pigment-producing F1 plants to
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 produce an F2 generation that consisted of 56% pigmented seeds, and 44% colorless seeds.
This clearly does not fit a simple Mendelian mono- or dihybrid ratio. Emerson correctly
deduced that two genes were involved in producing pigment, and that the second cross had
thus been a dihybrid cross. As there are 16 possible outcomes for a dihybrid cross,
Emerson multiplied the fraction of offspring in each category by 16. This yields (0.56)
(16) = 9 and (0.44) (16) = 7, or a ratio of 9 pigmented:7 colorless seeds. This, in turn can
be seen as a modification of the Mendelian dihybrid ratio of 9:3:3:1 (figure 12.15), where
3 of the phenotypic classes appear the same (colorless). The sum of these 3 phenotypic
classes is 3+3+1=7, thus a 9:7 ratio.

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