GENETICS REVIEWER
CHAPTER 3
MENDELIAN GENETICS
150 yrs ago
The first significant insights in how the inheritance of biological
traits took place.
1866
Gregor Johann Mendel published the results of a series of
experiments that would lay the foundation for the formal discipline of
genetics.
His work went largely unnoticed until the turn of the 20 th century
but eventually, the concept of the gene as a distinct hereditary unit
was established.
Since then, the ways in which genes (segments of chromosomes)
are transmitted to offspring and control traits have been clarified.
Punnett Square
Is a visual representation of Mendelian inheritance.
20th Century
Research continued persistently until the present.
Genetics at the molecular level have remained at the forefront of
biological research since the early 1900s.
Gregor Johann Mendel
Began his studies of inheritance using the Garden Pea (Pisum
sativum) when the chromosomes and the role and mechanism of
meiosis were totally unknown.
But, he determined that discrete units of inheritance exist and
predicted their behavior in the formation of gametes.
Fungo, 2020
In his work, the gene was viewed as a heritable unit factor that
determines the expression of an observable trait or phenotype.
Subsequent/Following Investigators
With access to cytological data, were able to relate their own
observations of chromosome behavior during meiosis and Mendel’s
principle of inheritance.
Once this correlation was recognized, his postulates/claims were
accepted as the basis for the TRANSMISSION GENETICS study.
Transmission Genetics
Study of how genes are transmitted from parents to offspring.
These principles were derived directly from Mendel’s
experimentation.
3.1 Mendel Used a Model Experimental Approach to Study
Patterns of Inheritance
Johann Mendel
Born in 1822 to a peasant family in the Central European village
of Heinzendorf.
Was an excellent student and studied philosophy for sev. yrs.
He had received support from the monastery for his studies and
research throughout his life.
 1843 - used the name Gregor, was admitted to the
Augustinian Monastery of St. Thomas in Brno (now part of
the Czech Republic).
 1849 - was relieved of pastoral duties.
 From 1851 to 1853 - attended the University of Vienna
where he studied Physics and Botany.
 1854 - returned to Brno to teach Physics and Natural Science
for the next 16 years.
 1856 - performed his first set of hybridization experiments w/
the garden pea (launched the research phase of his career).
 1868 - research experiments continued until he was elected as
abbot/head of the monastery. He still has interest on genetics
but being the head demanded most of his time.
 1884 - he died of a kidney disorder. The local newspaper paid
him a tribute.
1865
He first reported the results of some simple genetic crosses
between certain strains of the garden pea.
From the analysis of his data, he derived certain postulates that
have become the principles of transmission genetics.
His findings went unappreciated until the 20 th century, but his work
wasn’t the first attempt to provide experimental evidence pertaining
to inheritance.
Mendel showed a remarkable insight in the METHODOLOGY
necessary for good experimental biology:
1. Organism that is east to grow and hybridize artificially.
The garden pea plant is self-fertilizing in nature, but it’s also easy
to cross-breed experimentally. It reproduces well and grows to
maturity in a single season.
2. Followed seven visible feature or characters each represented
by two contrasting forms or traits.
For the character stem height, example is the he experimented
with the tall and dwarf traits.
He selected 6 other contrasting pairs of traits involving seed
shape and color, pod (case that hold the plant’s seed) shape and color,
and flower color and position.
He used true-breeding strains from local seed merchants.
3. He restricted his examination to one or very few pairs of
contrasting traits in each experiment.
4. He kept accurate quantitative records (a necessity in genetic
experiments).
Mendel made similar crosses between pea plants showing each of
the other pairs of contrasting traits.
The outcome was similar to the tall/dwarf cross.
 All F1 offspring expressed the same trait exhibited by one of
the parents.
 In the F2 offspring, an approx. ratio of 3:1 was obtained.
 3/4 looked like the F1 plants, 1/4 exhibited the contrasting
trait (that disappeared in the F1 generation).

Reciprocal Crosses
Crosses between different genetic stocks, strains, or species
where the sexes of the parents are reversed.
In each cross, the F1 and F2 patterns of inheritance were similar
regardless of which P1 plant served as the source of pollen (sperm)
and which served as the source of the ovum (egg).
Crosses could be made either way via pollination of dwarf plants
by tall plants or vice versa.
Results: Monohybrid crosses were not sex dependent.

To Explain These Results

Mendel proposed the existence of PARTICULATE UNIT
FACTORS for each trait.
He suggested that these factors serve as the basic units of heredity
and are passed unchanged from generation to generation, determining
various traits expressed by each individual plant.
He then hypothesized how such factors account for the results of
3.2 The Monohybrid Cross Reveals How One Trait is the monohybrid crosses.
Transmitted from Generation to Generation
Monohybrid Cross
Mendel’s simplest crosses that only involved one pair of
contrasting traits.
Is made by mating true-breeding individuals from two parent
strains, each exhibiting one of the two contrasting forms of the
character under study.
 P1 or Parental Generation
Original parents
 F1 or First Filial Generation
Their offspring
 F2 or Second Filial Generation
Resulting from the selfing (self-fertilizing) F1 generation,
and so on.

Cross Between True-Breeding Pea Plants with Tall and Dwarf

Stems
Is a representative of Mendel’s monohybrid cross.
They are contrasting traits of the character of stem height.
If they undergo selfing, they will only produce the same plants
with the same stem height as them.

Results:
When he crossed tall plants and dwarf plants, the resulting F1
generation consisted of ONLY TALL PLANTS. The dwarf trait
disappeared here
When the members of the F1 selfed, it was observed that 787 out
of 1064 F2 plants were tall, while 277of 1064 were dwarf.

Genetic Data
Are usually expressed and analyzed as ratios.
Ex:
Many identical P1 crosses were made and many F1 plants
(ALL TALL) were produced. 1064 is the total of offspring,
whereas 787 were tall and 277 were dwarf. The ratio is
2.8:1.0 or about 3:1 (787/277 : 277/277).

FIGURE 3.1

Fungo, 2020

Mendel’s First Three Postulates/Principles of Inheritance
Provide a suitable explanation for the results of the monohybrid
crosses.
Help describe the basis for the inheritance of phenotypic traits.
He hypothesized that unit factors exist in pair and exhibit a
dominant/recessive relationship in determining the expression of
traits.
He further postulated that unit factors segregate during gamete
formation, such that each gamete receives one or the other factor (w/
equal probability).
I. UNIT FACTORS IN PAIRS
“Genetic characters are controlled by unit factors existing in pairs in
individual organisms.”
Unit Factor
In the monohybrid cross involving tall and dwarf stems, this
specific factor exists for each trait.
Each diploid individual receives one factor from each parent.
Bcs the factors occur in pair, three combinations are possible
(every individual possesses one of these three combination, which
determines stem height):
 2 factors for tall stems
 2 factors for dwarf stems
 1 of each factor
Fungo, 2020
II. DOMINANCE/RECESSIVENESS
“When two unlike unit factors responsible for a single character are
present in a single individual, one unit factor is dominant to the
other, which is said to be recessive.”
Dominant Unit Factor
Controls the trait expressed in the F1 generation in each
monohybrid cross.
Recessive Unit Factors
Controls the disappeared or trait not expressed in the F1
generation.
Dominant and Recessive
Also used to designate traits.
Tall stems are said to be dominant over recessive dwarf stems.
III. SEGREGATION
“During the formation of gametes, the paired unit factors separate,
or segregate, randomly so that each gamete receives one or the other
with equal likelihood.”
If an individual contains a pair of like unit factors (both specific
for tall), then all its gametes receive one of the same kind of unit
factor (Tall).
If an individual contains unlike unit factors (one for tall and one
for dwarf), then each gamete has a 50% probability of receiving
either the tall or the dwarf unit factor (TALL bcs it’s the dominant
trait).
Application
Mendel reasoned that P1 tall plants contained identical paired
unit factors (tall factor), like how P1 dwarf plant contained identical
paired unit factors (dwarf factors).
As a result of segregation, the gametes of tall plants all receive
one tall unit factors. Whereas, the gametes of dwarf plants all receive
one dwarf unit factor.
After fertilization, the F1 plants receive one unit factor from each
parent (one tall and one dwarf) bcs they are crossed. But bcs TALL
IS DOMINANT TO DWARF, ALL F1 PLANTS ARE TALL.
F1 Gametes
The POSTULATE OF SEGREGATION demands that each
gamete randomly receives either tall or dwarf unit factor. After F1
selfing, combinations will result w/ equal frequency:
a) Tall/Tall
b) Tall/dwarf
c) dwarf/Tall
d) dwarf/dwarf
 A & B - result in tall and dwarf plants, respectively.
 B & C - according to the POSTULATE OF
DOMINANCE/RECESSIVENESS, will yield tall plants.
 F2 - will result in 3/4 tall and 1/4 dwarf or a ratio of 3:1.
This was observed in the stem height cross. But this similar
pattern was observed in each of the other monohybrid crosses.
Modern Genetic Technology The genotypes and phenotypes of all potential offspring are
Phenotype ascertained by reading the combinations in the boxes.
The physical expression of a trait by an individual. 3:1 phenotypic ration and the 1:2:1 (DD, Dd, dd) genotypic ratio
Ex: can be derived in the F2 generation here.
Traits such as tall or dwarf which are physical expressions of
the information contained in unit factors. Punnett Square Method
Useful when you’re first learning about genetics and how to solve
Genes genetics problems.
Units of inheritance represented by unit factors.

Alleles
Alternative forms of a single gene that determines the phenotype
of a given character (like plant height).
Ex:
The unit factors representing tall and dwarf are alleles
determining the height of the pea plant.

Geneticists have several diff. systems for using symbols to

represent genes.
1.) The first letter of the recessive trait symbolizes the character in
question.
 Designates the Allele for the Dominant Trait - Uppercase
italic (D for tall allele)
 Designates the Allele for the Recessive Trait - Lowercase
italic (d for dwarf allele)

Genotype
Part of the genetic makeup of a cell, and of any individual, which
determines one of its characteristics.
Designates the genetic makeup of an individual for the trait of
traits it describes, whether it’s haploid or diploid.
The resulting symbol when alleles are written in pairs to represent
the two unit factors present in any individual (DD, Dd, or dd).
By reading this, we know the phenotype of an individual: DD and
Dd are tall, while dd is dwarf.

Same Alleles (DD or dd)

The individual is a HOMOZYGOTE or HOMOZYGOUS for
the trait.
 Homozygous - a particular gene that has identical alleles on
both homologous chromosomes.

Different Alleles (Dd or dD)

The individual is a HETEROZYGOTE or HETEROZYGOUS
for the trait.
 Heterozygous - a particular gene that has different alleles on
both homologous chromosomes.

Punnett Squares
A diagram constructed to visualize the genotypes and phenotypes
resulting from combining gametes during fertilization.
Named after the Reginald C. Punnett who first devised this
approach.

FIGURE 3.3
Illustrates the Punnett Square method of analysis for F1 x F1
monohybrid cross.
1) Each of the possible gametes is assigned a column or a row.
The vertical columns represent the female parent. The
horizontal rows represent the male parent.
2) After assigning the gametes to the rows and columns, we
predict the new generation by entering the male and female
gametic information into each box and thus producing every
possible resulting genotype.
3) By filling out the Punnett Square, we list all possible random
fertilization events.

Fungo, 2020
 A cross involving two pairs of contrasting traits.
The Testcross: One Character Ex:
Tall plants produced in the F2 generation are predicted to have If pea plants having YELLOW & ROUND seeds were bred
either the DD or the Dd genotype. with those having GREEN & WRINKLED seeds FIGURE
3.5 would occur.
Testcross  F1 offspring will be all yellow and round (both
A rather simple method devised by Mendel to discover the dominant traits).
genotype of plants and animals.  When F1 selfed, in the F2 plants approx. 9/16 are
The organism expressing the dominant phenotype but having an yellow & round, 3/16 are yellow and wrinkled, 3/16 are
unknown genotype is crossed with a known HOMOZYGOUS green and round, and 1/16 are green and wrinkled.
RECESSIVE INDIVIDUAL (dd).
A variation of this experiment with dihybrid crossing YELLOW
Examples: & WRINKLED with GREEN & ROUND seeds was done.
It resulted with the same results as above in spite w/ the change in
FIGURE 3.4a the P1 phenotypes.
If a tall plant of genotype DD is testcrossed w/ a dwarf plant,
which must have the dd genotype, all offspring will be tall
phenotypically and Dd genotypically. Mendel’s Fourth Postulate: Independent Assortment
Theoretically, a dihybrid cross consists of two monohybrid
FIGURE 3.4b crosses conducted separately.
If a tall plant is Dd and is cross w/ a dwarf plant (dd), then one- To consider inheritance of up to two pairs of contrasting traits.
half of the offspring will be tall (Dd) and the other half will be dwarf
(dd). First Theoretical Cross
Bcs yellow is dominant to green, all F1 plants would have yellow
1:1 Tall/Dwarf Ratio seeds.
Demonstrates the heterozygous nature of the tall plant of  Predicted F2 Results: 3/4 yellow; 1/4 green
unknown genotype.
The results of the testcross reinforced Mendel’s conclusion that Second Theoretical Cross
separate unit factors control traits. Bcs round is dominant to wrinkled, all F1 plants would have
round seeds.
 Predicted F2 Results: 3/4 round; 1/4 wrinkled

When Mendel examined the F1 plants of the dihybrid cross, all were
yellow and round.

FIGURE 3.5
In the dihybrid cross, 12/16 plants are yellow and 4/16 are green
(showing the 3:1 or 3/4:1/4 ratio).
Similarly, 12/16 of all F2 plants have round seeds, while 4/16
have wrinkled seeds (with the same 3:1 ratio).

These numbers demonstrate that the two pairs of contrasting traits

are inherited independently.
We can predict the frequencies of all possible F2 phenotypes by
applying the PRODUCT LAW OF PROBABILITIES.

3.3 Mendel’s Dihybrid Cross Generated a Unique F2 Ratio

Mendel also designed experiments where he examined two
characters simultaneously.

Locus (pl. loci)

A specific, fixed position on a chromosome where a particular
gene or genetic marker is located.

Dihybrid Cross/Two-Factor Cross

Is a cross between two different lines/genes that differ in two
observed traits.
According to Mendel’s statement, between the alleles of both
these loci there is a relationship of completely dominant-recessive
traits.

Fungo, 2020

Product Law of Probabilities
The probability of two or more independent events occurring
simultaneously is equal to the product of their individual
probabilities.
It states that the probability of two independent events occurring
tgt can be calculated by multiplying the individual probabilities of
each event occurring alone.
Ex:
 The probability of an F2 plant having yellow and round
seeds is (3/4)(3/4) or 9/16 bcs 3/4 of all F2 plants should
be yellow and 3/4 of all F2 plants are round.
 Yellow (3/4) and Round (3/4) = 9/16
The probabilities of the other three F2 phenotypes can be
calculated by multiplying:
This shows why the F1 and F2 results are identical whether the
initial cross is yellow, round plants bred w/ green wrinkled plants, or
whether yellow, wrinkled plants are bred with green round plants.
F1 genotype of all offspring is identical. As a result, the F2
generation is also identical in both crosses.
 Yellow (3/4) and Wrinkled (1/4) = 3/16
 Green (1/4) and Round (3/4) = 3/16
 Green (1/4) and Wrinkled (1/4) = 1/16
Based on the Similar Results in Numerous Dihybrid Crosses,
Mendel Proposed a 4th Postulate/Claim:
IV. INDEPENDENT ASSORTMENT
“During gamete formation, segregating pairs of unit factors assort
independently of each other.”
This stipulates/specifies that segregation of any air of unit factors
occurs independently of all others.
As a result of random segregation, each gamete receives one
member of every pair of unit factors.
For one pair, whichever unit factor is received does not influence
the outcome of segregation of any other pair. Thus, accr. to this
postulate, all possible combinations of gametes should be formed in
equal frequency.
Fungo, 2020
States that each pair of unit factors segregates independently of
other such pairs. As a result, all possible combinations of gametes are
formed w/ equal probability.
FIGURE 3.7
Shows how independent assortment works in the formation of the
F2 generation.
Segregation prescribes that every gamete receives either a G or g
allele or a W or w allele.
It stipulates that ALL FOUR COMBINATIONS (GW, Gw,
gW, & gw) will be formed w/ equal probabilities.
In Every F1 x F1 Fertilization Event
Each zygote has an equal probability of receiving one of the four
combinations from each parent.
Mendel’s 9:3:3:1 Dihybrid Ratio
If many offspring are produced, 9/16 have yellow round seeds,
3/16 have yellow wrinkled seeds, 3/16 have green round seeds, and
1/16 have green wrinkled seeds.
An ideal ratio based on probability events involving segregation,
independent assortment, and random fertilization.
Bcs of deviation due strictly to change, particularly if small
numbers of offspring are produced, actual results are highly unlikely
to match the ideal ratio.
3.4 The Trihybrid Cross Demonstrates That Mendel’s Principles
Apply to Inheritance of Multiple Traits
Mendel also demonstrated that the process of segregation and
independent assortment also apply to three pairs of contrasting traits.
Trihybrid Cross/Three-Factor Cross
Cross between the two individuals of a species for studying the
inheritance of three pairs of factors or alleles belonging to three
different genes.
Is somewhat more complex than a dihybrid cross, but its results
are easily calculated if the principles of segregation and independent
assortment are followed.
Ex:
FIGURE 3.8
The allele pairs of theoretical contrasting traits are represented by
the symbols A, a, B, b, C, and c.
In the cross between AABBCC and aabbcc individuals, ALL F1
INDIVIDUALS ARE HETEROZYGOUS FOR ALL THREE
GENE PAIRS.
Their genotype (AaBbCc), results in the phenotypic expression of
the dominant A, B, & C traits.
 When F1 individuals serve as parents, each produces 8 diff.
gametes in equal frequencies.
A plausible solution is to construct a Punnett Square w/ 64 diff.
boxes but the method is too bulky.
Another method is used such as the FORKED-LINE METHOD
or BRANCH DIAGRAM.
The Forked-Line Method or Branch Diagram
Is less complex than but just as accurate as the Punnett square in
predicting the probabilities of phenotypes or genotypes from crosses
involving two or more gene pairs.
Relies on the simple application of the laws of probability
established for the dihybrid cross.
Each gene pair is assumed to behave independently during
gamete formation.
When monohybrid cross AA x aa is made, we know that:
1. All F1 individuals have the genotype Aa and express the
phenotype represented by the A allele, which is called the A
phenotype (in the following discussion).
2. The F2 generation consists of individuals w/ either the A
phenotype or the a phenotype in the ratio of 3:1.
The same generalizations can be made for the BB x bb and CC x cc
crosses.
 In the F2 generation, 3/4 of all organisms will express
phenotype A, 3/4 for B, 3/4 for and C.
 Also in the F2 generation, 1/4 of all organisms will express a,
1/4 for b, and 1/4 for c.
The proportions of organisms that express each phenotypic
combination can be predicted by assuming that fertilization,
following the independent assortment of these three gene pairs during
gamete formation is a RANDOM PROCESS.
We apply the PRODUCT LAW OF PROBABILITIES once
again.
FIGURE 3.9
Use the forked-line method to calculate the phenotypic
proportions of the F2 generation.
They fall into the trihybrid ratio of 27:9:9:9:3:3:3:1.
Fungo, 2020
The same method can be used to solve crosses involving any
number of gene pairs, provided that ALL GENE PAIRS ASSORT
INDEPENDENTLY FROM EACH OTHER.
Tbh, gene pairs do not always assort w/ complete independence.
However, it appeared to be true for all of Mendel’s characters.
3.5 Mendel’s Work Was Rediscovered in the Early Twentieth
Century
1866
When Mendel published his work.
While his findings were often cited and discussed, their
significance went unappreciated for about 35 yrs.
Latter Part of the 19th Century
A remarkable observation set the scene for the recognition of
Mendel’s work, was Flemming’s work.
Walther Flemming
He discovered chromosomes in the nuclei of salamander cells.
 1879 - he described the behavior of these thread-like
structures during cell division.
 Result: The presence of discrete units within the nucleus
soon became an integral part of scientists’ ideas about
inheritance.
Discovery of Chromosomes in the Late 1800s (along w/
subsequent studies of their behavior during meiosis)
Led to the rebirth of Mendel’s work, linking the behavior of his
unit factors to the chromosomes during meiosis.
Early 20th Century
Hugo de Vries, Carl Correns, & Erich Tschermak
Three botanists who performed INDEPENDENTLY on
hybridization experiments similar to Mendel.
 de Vries - his work demonstrated the principle of segregation
in several plant species. He searched the existing literature
and found that Mendel’s work had anticipated his own
conclusions.
 Correns & Tschermak - also reached conclusions similar to
Mendel.
Walter Sutton & Theodor Boveri
Two cytologists (study and identify cells of diseases such as
cancer and bacterial infections) about the same time,
INDEPENDENTLY published papers linking their discoveries of
the behavior of chromosomes during meiosis to the Mendelian
PRINCIPLES OF SEGREGATION and INDEPENDENT
ASSORTMENT.
They pointed out that the separation of chromosomes during
meiosis could serve as the cytological basis of these two postulates.
Though, they thought that Mendel’s unit factors were probably
chromosomes rather than genes on chromosomes, their findings
reestablished the importance of Mendel’s work and led to many
ensuing genetic investigations.
They were credited with initiating the CHROMOSOME
THEORY OF INHERITANCE.
Their hypothesis was correct based on the work of Thomas H.
Morgan, Alfred H. Sturtevant, and Calvin Bridges.
Chromosome Theory of Inheritance
The idea that the genetic material in living organisms is contained
in chromosomes, which was developed during the next 2 decades.
Unit Factors, Genes, and Homologous Chromosomes
The correlation between Sutton’s and Boveri’s observations
and Mendelian postulates serves as the foundation for the modern
description of transmission genetics.
Each species possesses a specific number of chromosomes in
each somatic cell nucleus.
Criteria Necessary to Classify Two Chromosomes as a
Homologous Pair
1. During mitosis and meiosis, when chromosomes are visible in their
characteristic shapes, both members of a homologous pair are the
same size and exhibit identical centromere locations. The sex
chromosomes (e.g., the X and the Y chromosomes in mammals) are
an exception.

Diploid Number (2n) 2. During early stages of meiosis, homologous chromosomes for pairs
The specific number of chromosomes for diploid organisms and (SYNAPSE).
species.

Haploid Number (n)

The specific number of chromosomes for sex cells (in humans).
During the formation of gametes (meiosis), the number is
precisely halved (n), and when two gametes combine during
fertilization, the diploid number is reestablished.
During meiosis, the chromosome number is not reduced in a
random manner.

The diploid number of chromosomes is composed of homologous

pairs identifiable by their morphological appearance and behavior.
The gametes contain one member of each pair (THE
CHROMOSOME COMPLEMENT OF A GAMETE IS QUITE
SPECIFIC) and the number of chromosomes in each gamete is equal
to the Haploid Number (n).

Correlation of the Behavior of Unit Factors and Chromosomes

and Genes
Unit Factors
Are genes located on homologous pairs of chromosomes.
Members of each pair of homologs separate, or segregate during
gamete formation.

Illustration of the Principle of Independent Assortment

It’s important to distinguish between members of any given
homologous pair of chromosomes.
1. One member of each pair came from the MATERNAL PARENT.
2. Another came from the PATERNAL PARENT.
 After independent segregation of each pair of homologs, each
gamete receives one member from each pair of chromosomes.
 All possible combinations are formed w/ equal probability.
Observations of the Phenotypic Diversity
Indicates that there are many more genes than chromosomes.
Therefore, each homolog (genes from the same ancestral
sequence) must carry genetic information for more than one trait.
Currently Accepted Concept
A chromosome is composed of a large number of linearly
ordered, information-containing genes.
Mendel’s paired unit factors (determine tall or dwarf stems)
establish a pair of genes located on one pair of homologous
chromosomes.
3. Although it’s not generally visible under the microscope, homologs
contain the identical linear order of gene loci.
3.6 Independent Assortment Leads to Extensive Genetic
Variation
Consequence of Independent Assortment
Production by an individual of genetically dissimilar gametes.
Genetic Variation
Results bcs the two members of any homologous pair of
chromosomes are rarely identical.
As the maternal and paternal members of all pairs are distributed
to gametes through independent assortment, all possible chromosome
combinations are produced, leading to extensive genetic diversity.
Resulting from independent assortment has been extremely
important to the process of evolution in all sexually reproducing
organisms.

Locus (Pl. loci)
The location on a given chromosome where any particular gene
occurs.
Alleles
Alternative forms of a gene, arises via mutation.
The different alleles of a given gene (like G and g) contain
slightly diff. genetic information (green or yellow) that determines
the same characters (in this case, the seed color).
Though we have examined only genes w/ two alternative alleles,
most genes have more than two allelic forms.
The number of possible gametes, each w/ diff. chromosome
composition is 2n (n = haploid number).
Ex:
If a species has a haploid number of 4:
 24 or 16 different gamete combinations can be formed as a
result of independent assortment.
In Humans, with a haploid number of n = 23:
 223 or 8x106 (over 8 million) different gamete
combinations can be formed as a result of independent
assortment.

Fungo, 2020
  Bcs fertilization represents an event involving only one
of approx. 8x106 possible gametes from each of two
parents, each offspring represents only one of (8x106)2
or one of only 64x1012 potential genetic combinations.
 This probability is less than one in one trillion, except for
identical twins, each member of the human species exhibits a
distinctive set of traits.
 This number of combinations of chromosomes is far greater
than the number of humans who have ever lived on Earth.
3.7 Laws of Probability Help to Explain Genetic Events
Genetic Ratios (Ex: 3/4 tall : 1/4 dwarf)
Are most properly thought of as probabilities.
Are expressed as probabilities.
Deriving outcomes of genetic crosses requires an understanding
of the laws of probability.
These values predict the outcome of each fertilization event, such
that the probability of each zygote having the genetic potential for
becoming tall is 3/4, whereas the potential for its being a dwarf is 1/4.
 Probability 0.0 = event is certain not to occur
 Probability 1.0 = event is certain to occur
Relation of Probability to Genetics
When two or more events w/ known probabilities occur
independently but at the same time, we can calculate the probability
of their possible outcomes occurring tgt.
Accomplished by applying the PRODUCT LAW.
Product Law
States that the probability of two or more independent events
occurring simultaneously is equal to the product of their individual
probabilities.
Two or more events are independent of one another if the
outcome of each one does not affect the outcome of any of the others
under consideration.
To Illustrate the Product Law
There are 4 POSSIBLE OUTCOMES/RESULTS if you toss a
penny (P) and a nickel (N) at the same time and examine all
combinations of heads (H) and tails (T) that can occur.
 (PH : NH) = (1/2)(1/2) = 1/4
 (PT : NH) = (1/2)(1/2) = 1/4
 (PH : NT) = (1/2)(1/2) = 1/4
 (PT : NT) = (1/2)(1/2) = 1/4
The probability of obtaining a head or tail in either coin is 1/2, so
combining them is (1/2)(1/2). They’re independent of one another.
Sum Law
Used to calculate the probability when the possible outcomes of
two events are independent of one another by can be accomplished in
more than one way.
States that the probability of obtaining any single outcome, where
that outcome can be achieved by two or more events, is equal to the
sum of the individual probabilities of such events.
Example, in the penny and nickel situation, there are two ways in
which the desired outcome can be accomplished, each w/ a
probability of 1/4.
According to this, the overall probability in our example is equal
to:
(1/4) + (1/4) = 1/2
One half of all two-coin tosses are predicted to yield the
desired outcome.
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Simple Probability Laws
Useful throughout our discussions of transmission genetics and
for solving genetics problems.
We alry applied the product law when we used the forked-line
method to calculate the phenotypic results of Mendel’s dihybrid and
trihybrid crosses.
To know the results of a cross, we need only calculate the
probability of each possible outcome.
The results of this calculation then allow us to predict the
proportion of offspring expressing each phenotype or each genotype.
IMPORTANT POINT TO REMEMBER IN PROBABILITY
Predictions of possible outcomes are based on large sample sizes.
If the prediction is that 9/16 of the offspring of a dihybrid cross
will express both dominant traits, it’s unlike that exactly 9 individuals
will express this phenotype. Only approx. 9/16 will do so.
The deviation from the predicted ratio in smaller sample sizes is
attributed to chance.
The impact of deviation due strictly to change diminishes as the
sample size increases.
3.8 Chi-Square Analysis Evaluates the Influence of Chance on
Genetic Data
Mendel’s 3:1 monohybrid and 9:3:3:1 dihybrid ratios are
hypothetical predictions based on the ff. assumptions:
1. Each allele is dominant or recessive.
2. Segregation is unimpeded/unchecked.
3. Independent assortment occurs.
4. Fertilization is random.
3&4
Are influenced by chance events and are subject to RANDOM
FLUCTUATION.
Concept of Chance Deviation
Is most easily illustrated by tossing a single coin numerous times
and recording the number of heads and tails observed.
In each toss, there’s a probability of 1/2 that a head will
occur and a probability of 1/2 that a tail will occur.
Therefore, the expected ratio of many tosses is 1/2:1/2 or
1:1.
If a coin is tossed 1000 times, usually about 500 heads
and 500 tails will be observed.
Any reasonable fluctuation/variation from this
hypothetical ratio (e.g., 486 heads and 514 tails) is attributed
to chance.
As the Total Number of Tosses is Reduced
The impact of chance deviation increases.
Ex:
If a coin is tossed only 4 times, it’s possible to have 4
heads or 4 tails.
If tossed for 1000 times, 1000 heads/tails is most
unexpected. All heads or tails in 1000 tosses can be predicted
to occur w/ a probability of (1/2)1000. Since (1/2)20 is less than
one in a million times, an event occurring w/ a probability as
small as (1/2)1000 is virtually impossible.
Two Major Points When Predicting or Analyzing Genetic
Outcomes:
1. The outcomes of independent assortment and fertilization (like
coin tossing) are subject to random fluctuations from their predicted
occurrences as a result of chance deviation.
2. As the sample size increases, the average deviation from the
expected results decreases. Therefore, a large sample size diminishes
the impact of chance deviation on the final outcome.
Chi-Square Calculations and the Null Hypothesis
Chi-Square Analysis
Allows us to assess the H0 which states that there is no real
difference between the expected and observed values.
It tests the probability of whether observed variations can be
attributed to chance deviation.
Null Hypothesis (H0)
Is established when we assume that the data will fit a given ratio
such as 1:1, 3:1, or 9:3:3:1.
Assumes that there is NO REAL DIFFERENCE between the
measured values (ratio) and the predicted values (ratio).
Their validity is measured using statistical analysis.
Any apparent difference can be attributed purely to chance.
Depending on the results of the analysis, the null hypothesis may
either:
1. Be rejected
2. Fail to be rejected
Rejected Null Hypothesis
There is A REAL DIFFERENCE.
The observed deviation from the expected result is judged not to
be attributable to chance alone.
In this case, the null hypothesis and the underlying assumptions
leading to it must be reexamined.
Fail to Reject Null Hypothesis
Any observed deviations are attributed to chance.
Chi-Square (x2) Analysis
One of the simplest statistical tests for assessing the null
hypothesis.
Takes account the observed deviation in each component of a
ratio (from what was expected) as well as the sample size and reduces
them to a single numerical value.
x2
Its value is used to estimate how frequently the observed
deviation can be expected to occur strictly as a result of chance.
The formula used in chi-square analysis is:
(𝒐 − 𝒆)^𝟐
𝒙𝟐 = 𝚺
𝒆 Checking this result in the table confirms that p values for both
o = observed value for a given category.
e = expected value for that category.
Σ (Gr. letter Sigma) = represents the sum of the calculated values for
each category in the ratio.
Because (o - e) is the deviation (d) in each case, the equation
reduces to:
𝒅^𝟐
𝒙𝟐 = 𝚺  26% of the trials would be expected to exhibit chance
𝒆
Table 3.1A
Steps in the x2 calculation for the F2 results of a hypothetical
monohybrid cross.
To analyze this data, work from left to right across the table,
verifying the calculations as appropriate.
Regardless of whether the deviation d is positive or negative, d 2
always become positive after the number is squared.
Table 3.2B
F2 results of a hypothetical dihybrid cross are analyzed.
Fungo, 2020
FINAL STEPS IN CHI-SQUARE ANALYSIS
To interpret the x2 value.
To interpret, initially determine a value called the DEGREES
OF FREEDOM (df) which is equal to (n - 1).
Degrees of Freedom (df)
Must be taken into account bcs the greater the number of
categories, the more deviation is expected as a result of chance.
 n = number of diff. categories into which the data are divided,
the number of possible outcomes.
For the 3:1 Ratio
 n = 2, so df = 1
For the 9:3:3:1 Ratio
 n = 4, so df = 3
Once you have determined the df, you can interpret the x 2 value in
terms of a corresponding PROBABILITY VALUE (p).
Probability Value (p) or Calculated Probability
Is the probability of finding the observed, or more extreme,
results when the null hypothesis (H0) of a study question is true.
Since this calculation is complex, we usually take the p value
from a standard table or graph.
FIGURE 3.10
Shows a wide range of x2 values and the corresponding p values
for various degrees of freedom in both a graph and a table. The graph
is used to explain how to determine the p value.
To determine the p using the graph, execute the following steps:
1. Locate the x2 value on the abscissa (the horizontal axis, or x-axis).
2. Draw a vertical line from this point up to the line on the graph
representing the appropriate df.
3. From there, extend a horizontal line to the left until it intersects the
ordinate (the vertical axis, or y-axis).
4. Estimate, by interpolation, the corresponding p value.
Ex:
The x2 value is 4.16 and df = 3, an approximate p value is 0.26
(based on the FIGURE 3.1A).
the monohybrid and dihybrid crosses are between 0.20 and 0.50.
Interpreting Probability Values
p Value = Percentage
Example:
p = 0. 26 is equal to 26%
The p value indicates that if we repeat the same experiment many
times.
deviation as great or as greater than in the initial trial.
 74% (100 - 26) of the repeats would show less deviation than
initially observed as a result of chance.
The p value reveals that a null hypothesis (9:3:3:1 ratio, in this
case) is never proved or disproved absolutely.
Relative Standard
Is set that we use to either REJECT or FAIL TO REJECT the
null hypothesis.
This standard is most often a p value of 0.05.
When Applied to Chi-Square Analysis:
 p value less than 0.05 = the observed deviation in the
set of results will be obtained by chance alone less
than 5% of the time. Indicates that the difference
 between the observed and predicted results is
substantial and requires us to REJECT THE H0,
MAY DIFFERENCE.
 p value of 0.05 or greater (0.05 to 1) = Indicate that
the observed deviation will be obtained by chance
alone 5% or more of the time. This allows us NOT
TO REJECT THE H0, NO DIFFERENCE (when
p = 0.05 standard is used).

p = 0.26
Fail to reject the null.
The observed deviation can be reasonably attributed to chance.

When H0 is rejected, what are alternative interpretations of the

data?
Researchers will reassess the assumptions that underlies the null
hypothesis.
If any of these assumptions are incorrect, then the og hypothesis
is not necessarily invalid.
1. In our dihybrid cross, we assumed that segregation operates
faithfully for both gene pairs.
2. We also assumed that fertilization is random and that the
viability of all gametes is equal regardless of genotype (all
gametes are equally likely to participate in fertilization.
3. Following fertilization, all preadult stages and adult offspring
are equally viable, regardless of their genotype.

Example:
 H0: a dihybrid cross between fruit flies will result in 3/16
mutant wingless flies.
 However, fewer of the mutant embryos are able to survive
their preadult development or young adulthood compared to
flies whose genotype gives rise to wings.
 Result: There will be fewer than 3/16 wingless flies.
Rejection of the null hypothesis is not the cause for us to reject
the validity of the postulates of segregation and independent
assortment, bcs other factors we are unaware of may also be affecting
the outcome.
3.9 Pedigrees Reveal Patterns of Inheritance of Human Traits
Pedigree
Is a genetic representation of a family tree that diagrams the
inheritance of a trait or disease through several generations.
A family tree indicating the presence or absence of the trait in
question for each member of each generation.
When many pedigrees for the same trait are studied, we can often
ascertain/determine the mode of inheritance.
By analyzing this, we may be able to predict how the trait under
study is inherited.
Ex:
Is it due to a dominant or recessive allele.
Pedigree Conventions
FIGURE 3.11
Illustrates some of the conventions geneticists follow in
constructing pedigrees.
 Circles - represent females.
 Squares - represent males.
 Diamond - unknown sex of an individual.
 Parents - are connected to e/o by a single horizontal line, and
vertical lines lead to their offspring.
Generation
Each is indicated by Roman numeral.
Related/Consanguineous Parents
If they’re related such as first cousins, they are connected by a
double line.
Parents
Receive an Arabic number designation.
Offsprings/Sibs (Siblings)
Are connected by a horizontal sibship line.
Are placed in birth order from left to right and are labeled w/
Arabic numerals.
Twins
Are indicated by diagonal lines stemming from a vertical line
connected to the sibship line.
 Identical Monozygotic Twins - the diagonal lines are linked
by a horizontal line. Developed from the same fertilized egg,
and so have nearly identical genetic code.
 Fraternal or Dizygotic Twins - lack this connecting line.
Developed from two different eggs fertilized by two diff.
sperms.

A number within one of the symbols represents the number of sibs of

the same sex and of the same or unknown phenotypes.

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Proband
The individual whose phenotype first brought attention to the
family.
Is indicated by an arrow connected to the designation p.
This term applies to either a male or a female.
In Some Pedigrees
Those individuals that fail to express a recessive trait but are
known w/ certainty to be heterozygous carriers have a shaded dot
within their unshaded circle or square.
If an individual is deceased and the phenotype is unknown, a
DIAGONAL LINE is placed over the circle or square.
Pedigree Analysis
Autosomal
Pertaining to a chromosome that is not a sex chromosome.
People normally have 22 pairs of autosomes (44 autosomes) in
each cell, together w/ 2 sex chromosomes, XY male and XX female.
FIGURE 3.12
Further evidence supports the prediction of a recessive
trait.
 If albinism were inherited as a dominant trait,
individual II-3 would have to express the disorder in
order to pass it to his offspring (III-3 and III-4), but
he does not.
 Inspection of the offspring constituting the 3 rd
generation (Row III) provides further support for the
hypothesis that albinism is a recessive trait. If it is,
parents II-3 and II-4 are both heterozygous and
approx. 1/4 of their offspring should be affected. 2/6
offspring have albinism.
 This deviation from the expected ratio is not
unexpected in crosses w/ few offspring.
Once we are confident that albinism is inherited as an
autosomal recessive trait, we could portray the II-3 and II-4
individuals w/ a shaded dot within their larger square and
circle.
Characteristic of pedigrees for autosomal traits, both
males and females are affected w/ equal probability.

In the Sex-Determining X Chromosome

There’s a pedigree representing a gene here.
There are certain patterns characteristic of the
transmission of X-linked traits, such as these traits are more
prevalent in male offspring and are never passed from
affected fathers to their sons.

Autosomal Dominant Trait (Second Pedigree)

A pattern of inheritance in which an affected individual has one
copy of the mutant gene and one normal gene on a pair of autosomal
chromosomes.
One mutated copy of the gene in each cell is sufficient for a
person to be affected by an AUTOSOMAL DOMINANT
DISORDER. In some cases, an affected person inherits the condition
from an affected parent.
Caused by an AUTOSOMAL DOMINANT ALLELE.
Autosomal Recessive Trait (First Pedigree) Ex:
Is one of the several ways that a trait, disorder, or disease can be Huntington disease, neurofibromatosis, and polycystic kidney
passed down through family. disease
Both copies of the gene in each cell have mutations.
Caused by an AUTOSOMAL RECESSIVE ALLELE. The key to identifying this is that all affected offspring
will have a parent that also expresses the trait.
Autosomal Recessive Disorder It’s also possible by chance, that none of the offspring
Two copies of an abnormal gene must be present in order will inherit the dominant allele. If so, the trait will cease to
for the disease or trait to develop. exist in future generation.
Ex: Like recessive traits, as long as the gene is autosomal,
Cystic fibrosis, sickle cell anemia, and Tay-Sachs disease both male and female are equally affected.

Albinism When a given autosomal dominant disease is rare within a

Synthesis of the pigment melanin is obstructed.
A representative pedigree for a trait that demonstrates
autosomal recessive inheritance.
Characteristic of a situation in which a parent has a rare
recessive trait, the trait “disappears” in the offspring of the
next generation.
The male parent of the first generation (I-1) is affected.
Assuming recessiveness, the unaffected female parent (I-
2) is homozygous normal individual bcs none of the offspring
show the disorder.
If she’s heterozygous, 1/2 of the offspring would be
expected to have albinism (but none do). But small sampling
(3 offsprings) prevents our knowing for certain.
population (most are), then it’s highly unlikely that affected
individuals will inherit a copy of the mutant gene from both
parents.
In most cases, affected individuals are heterozygous for
the dominant allele. As a result, approx. 1/2 of the offspring
inherit it (borne out in the 2 nd pedigree in FIGURE 3.12).
When a mutation is dominant and a single copy is
sufficient to produce a mutant phenotype, homozygotes are
likely to be even more severely affected, perhaps even failing
to survive.

Fungo, 2020
 Ex:
Familial Hypercholesterolemia
This dominant gene is present here where heterozygotes
display a defect in their receptors for low-density
lipoproteins (LDLs or bad cholesterol).
As a result, too little cholesterol is taken up by the cells
from the blood, and elevated plasma levels of LDLs result.
Without intervention, heterozygous individuals usually
have heart attacks during the 4th decade of their life or before.
Heterozygotes
Have LDL levels about double that of a normal
individual.
Homozygotes
Are rare to happen and be detected.
Lack LDL receptors, and their LDL levels are nearly 10x
above the normal range.
They are likely to have a heart attack very early in life,
even before age 5, and almost inevitably before they reach the
age of 20.
Pedigree Analysis of Many Traits
Has historically been an extremely valuable research technique in
human genetic studies.
The approach does not usually provide certainty of the
conclusions obtained through experimental crosses yielding large
numbers of offspring.
When many independent pedigrees of the same trait or disorder
are analyzed, consistent conclusions can be often drawn.
TABLE 3.2
List of Numerous Human Traits and Classifies Them Accr. to
their Recessive or Dominant Expression
3.10 Tay-Sachs Disease: The Molecular Basis of a Recessive
Disorder in Humans
Case where a single mutant gene causes multiple effects
associated w/ a severe disorder in humans.
Tay-Sachs Disease (TSD)
A recessive disorder involving unalterable destruction of the
central nervous system.
Usually, two unaffected heterozygous parents, who most often
have no family history of the disorder, have a probability of 1/4 of
having a Tay-Sachs child.
 Infants w/ this are unaffected at birth and appear to develop
normally until they are about 6 mos. old.
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 Then, a progressive loss of mental and physical abilities
occurs.
 Afflicted infants eventually become blind, deaf, intellectually
disabled, and paralyzed (often within only a year or two,
seldom living beyond the age of 5).
TSD results from the loss of activity of a single enzyme,
HEXOSAMINIDASE A (Hex-A).
Hexosaminidase A (Hex-A)
An enzyme in humans that is encoded by the HEXA gene.
Plays a critical role in the brain and spinal cord (central nervous
system).
Normally found in lysosomes within cells, is needed to break
down the GANGLIOSIDE GM2 (a lipid component of nerve cell
membranes).
W/o functional Hex-A, gangliosides accumulate within neurons
in the brain and cause deterioration of the nervous system.
Heterozygous carriers of TSD w/ one normal copy of the gene
produce only about 50% of the normal amount of Hex-A, but they
show no symptoms of the disorder.
The activity of only one gene (one wild-type allele) is sufficient
for the normal development and function of the nervous system
explains and illustrates the molecular basis of recessive mutations.
Only when both genes are disrupted by mutation is the mutant
phenotype evident.
Responsible Gene
Located on the Chromosome 15 and codes for the alpha subunit
of the Hex-A enzyme.
More than 50 diff. mutations within the gene have been identified
that lead to TSD phenotypes.
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