GENE SEGREGATION AND

INTERACTION: MENDELIAN
INHERITANCE
Gregor Johann Mendel

July 22, 1822 - January 6 , 1884

- In the 1860 s, he introduced a new theory The alternate forms of genes are called the
oh inheritance based on his alleles.
experimental work with pea plants.
• If the two alleles that form the pair for a
trait are identical then the individual is
- He believed that heredity is the result of
said to be homozygous(AA,aa).
discrete units of inheritance, and even
single unit or gene was dependent in i its
• If the two genes are different then the
actions in an individual’s genome.
individual is heterozygous (Aa, aA)

- Father of Genetics
• The pair of alleles in an individual that are
responsible for the expression of a
certain traits is termed as genotype.

• The observable characteristics of

individual is called phenotype.

MONOHYBRID CROSSES
Observes the inheritance pattern of one
character.

- Inheritance of a trait depends on the

passing-on of units/genes.

- Mendel called the visible form the

dominant trait and the hidden form the
recessive trait.

- For any given trait, an individual inherits

one gene from each parent so that the
individuals have a pairing of two genes.
 DIHYBRID CROSSES up with two copies of these same genes, one
from each parent?
Mendel crossed varieties of peas that different
in two characteristics.

MORE SIMPLE CROSSES AND

RATIOS
- Mendel’s observations and conclusions 3 Phenotypic Ratios
are summarized in the following three 3:1 Ratio - arises in a simple genetic cross when
principles, or laws. both parents are heterozygous for a dominant
trait.

1:1 Ratio - results from the mating of a

LAW OF DOMINANCE
homozygous parent and a heterozygous parent.
When mating occurs between two organisms of
The third phenotypic ratio is not really a ratio:
different traits, each offspring exhibits the trait
all the offspring have the same phenotype
one parent only. I f the dominant alleles are
(uniform progeny). A cross between any two
present in an individual, the dominant trait will
homozygous parents— either between two of
result. The recessive trait will only if both alleles
the same homozygotes or between two different
are recessive.
homozygotes —produces progeny all having the
LAW OF SEGREGATION same phenotype.

Both alleles of a given gene -- one inherited from

the mother, the other from the father -- are
expressed equally in each offspring.

If a plant has two copies of every gene, how

does it pass only one copy of each to its
progeny? And how then do the offspring end
 RATIOS OF GENOTYPES determine phenotypic or genotypic ratios for
any number of characteristics.
1:2:1 ratio - produced by a cross between two
heterozygotes

1:1 ratio - produced by a cross between a RULES OF PROBABILITY OF

heterozygote and a homozygote
MENDELIAN INHERITANCE
Uniform progeny produced by a cross between
two homozygotes.
AND CHI SQUARE TEST
INTRODUCTION

- The rules of probability can be applied to

LAW OF INDEPENDENT Mendelian crosses to determine the
ASSORTMENT expected phenotypes and genotypes of
offspring. In this chapter we are going to
During the formation of the gamete, the alleles
use three mathematical operations to
of one trait will segregate independently of
compute for their probability, these are
another trait. Therefore, the inheritance of
the product rule, sum rule and chi
genes responsible for the expression of color
square.
and shape of the seeds were not dependent on
each other.

ROLE OF PROBABILITY IN SEGREGATION OF

ALLELES AND FERTILIZATION

- In genetic cross, the probability of the

dominant trait being expressed is
dependent upon its frequency. In this
case, both parents possessed a
dominant and recessive gene from the
trait of flower color. The dominant trait is
expressed in ¾ of the offspring and the
recessive trait is expressed in ¼.

principle/law of independent assortment

states that alleles at different loci separate
independently of one another.

BRANCH DIAGRAM
A Branch diagram is a convenient way of
organizing all the combinations of
characteristics. The advantage of the branch
diagram is that it helps keep track of all the
potential combinations of traits that may
appear in the progeny. It can be used to
 WHAT IS PROBABILITY? ➢ The product rule of probability can be
applied to this phenomenon if the
Probability is a mathematical measure of independent transmission of
likelihood or a likelihood that a particular characteristics.
event will occur. The empirical probability of
an event is calculated by dividing the number
of times the event occurs by the total number ➢ It states that the probability of two
of opportunities for the event. independent events occurring together
Empirical probabilities come from can be calculated by multiplying the
observations such as those of Mendel. individual probabilities of each event
occurring alone.
➢ An example of a genetic event is a round
seed produced by a pea plant. Mendel
demonstrated that the probability of the - Consider how the product rule is applied
event “round seed” was guaranteed to to a dihybrid: the probability of having
occur in the F1 offspring of true-breeding both dominant traits in the F2 progeny is
parents, one of which has round seeds the product of the probabilities of having
and one of which has wrinkled seeds. the dominant trait for each
➢ When the F1 plants were subsequently characteristic.
self-crossed, the probability of any given For instance, performing a cross between a
F2 offspring having round seed was now plant with green, wrinkled seeds and a plant
three out of four. with yellow, round seeds produced offspring
➢ In other words, in large population of F2 that had a 3:1 ratio of round: wrinkled seeds.
offspring chosen at random, 75% were The characteristics of color and texture did not
expected to have round seeds, whereas influence each other.
25% were expected to have wrinkled
seeds.

➢ Using large numbers of crosses, Mendel

was able to calculate probabilities and
use these to predict the outcomes of
other crosses.

PRODUCT RULE
➢ Gregor Mendel demonstrated that the
pea-plant characteristics he studied
were transmitted as discrete units from
parent to offspring.

➢ He also determined that different ➢ Imagine that you are rolling a six-sided
characteristics were transmitted die (D) and flipping a penny (P) at the
independently of one another and could same time.
be considered in separate probability
analyses.
 ▪ The die may roll any number from You should also notice that we used the
1-6 (D#), whereas the penny may product rule to calculate the probability of PH
turn up heads (PH) or tails (PT). and QT and the probability of PT and QH, before
we summed them. The sum rule can be applied
▪ The outcome of rolling the die has
to show the probability of having just one
no effect on the outcomes, and
dominant trait in the F2 generation of a dihybrid
each is expected to occur with
cross.
equal probability:
According to Mendel, to use probability
▪ D1PH, D1PT, D2PH, D2PT, D3PH,
laws in practice, it is necessary to work with
D3PT, D4PH, D4PT, D5PH, D5PT,
large samples sizes because small sample sizes
D6PH, D6PT.
are prone to deviations caused by chance. The
▪ Of the 12 possible outcomes, the large quantities of pea plants that Mendel
die has a 2/12 (or 1/6) probability examined allowed him to calculate the
of rolling two, and the penny has probabilities of the traits appearing in his F2
6/12 (or ½) probability of coming generation. This discovery meant that when
up heads. parental traits could be predicted accurately
even before fertilization.
▪ The probability that you will
obtain the combined outcome 2
and heads is:
CHI SQUARE TEST
▪ (D2) x (PH) = (1/6) x (1/2) or (1/12)
=½ - A Chi Square test uses probability to
detect differences between Expected
▪ The word “and is a signal to apply
and Observed
the product rule.
Values. The predictions made in Mendel’s
monohybrid and dihybrid cross are based on
SUM RULE some assumptions that certain events are
random and will occur with a certain probability.
The sum rule (or rule) is applied when
considering two mutually exclusive outcomes
that can result from more than one pathway.

It states that the probability of the

occurrence of one event or the other, of two
mutually exclusive events, is the sum of their
individual probabilities. - Simple predictions from Mendelian
genetics are not always observed. If the
What is the probability of one coin
observed data differ substantially from
coming up heads and one coming up what would have been expected from our
tails? Punnett square and probability
We calculate the probability of obtaining one calculations, we can infer that the
head and one tail as: simple assumptions, such as
independent assortment, are not true.
[(PH) × (QT)] + [(QH) × (PT)] = [(1/2) × (1/2) + (1/2)
× (1/2)] = 1/2
- When we assume that the observed data If a scientist breeds 2,300 fruit flies, each
of a genetic cross will fit a given phenotype should be represented by
Mendelian ratio, a null hypothesis (HO) approximately 575 flies. However, in this
is generated, which is that there will be case, the observed results look rather
no real difference between the different from the results that would be
measured values (or ratio) and the expected from a random process. So, are
expected values (or ratio). The HO can these results significantly different than
either be rejected or not rejected. expected?

For these fruit fly crosses, x2= 1002.65, and df

- Below is an illustrated chi-square test
=3. For three degrees of freedom, the x2 value
using cross between genes for body
must be found for there to be only 5% that the
color and wing type in fruit flies. In this
differences are due to chance (p< 0.05) is 7.82
genes, brown bodies (B) and normal
. That is, any x2 value greater than 7.82 has
wings (W) are dominant traits, and black
less than 5% probability of occurring by
bodies (b) and vestigial wings (w) are
chance. Since our x2 value of more than 1000
recessive traits. A female fruit fly
is much greater than 7.82. In other words, this
heterozygous for brown body and normal
result is highly unlikely to have occurred by
wings (BbWw) was crossed with the male
chance.
fruit fly with a black body and vestigial
wings (bbww).

- In this cross, we expect a 1:1:1:1 ratio of MENDEL’S THEORY OF

the following phenotypes: brown body, INHERITANCE
normal wings; black body, vestigial
wings; black body, normal wings; and DOMINANCE - Some genes do not code for
brown body, vestigial wings. That is, on clear dominant or recessive traits.
average, one-quarter (25%) of the
offspring from this cross should be in
SEGREGATION - Each individual that is diploid
each of the four phenotype categories.
has a pair of alleles (copy) for a particular trait.
- If a scientist breeds 2,300 fruit flies, each
phenotype should be represented by
approximately 575 flies.
INDEPENDENT ASSORTMENT - Genes that are
However, in this case, the observed near each other on the same chromosome are
results look rather different from the sometimes linked that they are not sorted
results that would be expected from a independently into gametes.
random process. So, are these results
significantly different than expected?
 GENE SEGREGATION AND 3. Sex-linked Traits - The sex of the individual is
determined by sex chromosomes.
INTERACTION: NON-MENDELIAN
INHERITANCE
1. Incomplete Dominance - both traits are
expressed but the traits are blended together
rather than occurring in discrete patches.

MULTIPLE ALLELISM
- more than two alleles are present within
a group of organisms. It is also referred to
COMPLETE DOMINANCE as an allelic series.

EXAMPLE:

- Duck feather patterns.

- ABO blood type

Duck feather patterns.

2. Co-Dominance - Alleles combine to

influence the phenotype of the organism.

ABO blood group

- The three common alleles for the ABO
blood group locus are: IA, which codes
for the A antigen; IB, which codes for the
B antigen; and.i, which codes for no
antigen (0).
- The IA and IB show co-dominance. MODIFIER GENES
• Modifier gene is a gene that influences
the expression of another gene.
• For example, one gene control whether
eye color is blue or brown but other
(modifier) genes can also influence the
color by affecting the amount or
distribution of pigment in the iris.

GENE INTERACTION
• Frequently, genes exhibit independent
assortment but do not act independently
in their phenotypic expression; instead,
the effects of genes at one locus depend
on the presence of genes at other loci.
This type of interaction between the
effects of genes at different loci (genes
that are not allelic) is termed gene
Penetrance and Expressivity interaction.
- Penetrance is defined as the percentage
of individual organisms having a • With gene interaction, the products of
particular genotype that express the genes at different loci combine to
expected phenotype. produce new phenotypes that are not
predictable from the single-locus effects
- Expressivity - variability in the degree to alone. In our consideration of gene
which the phenotype is expressed. interaction, we will focus primarily on
interaction between the effects of genes
at two loci, although interactions among
genes at three, four, or more loci are
Lethal Genes
common.
• Lucien Cuénot reported the first case of
a lethal allele.

• A lethal allele is one that causes death at

a near stage of development- often
before birth-and so some genotypes may
not appear among the progenies.

• Can be recessive or dominant.

 GENE INTERACTION THE ENVIRONMENTAL INFLUENCE ON
PRODUCES NOVEL PHENOTYPES GENE EXPRESSION
- The expression of a genotype may be
affected by environmental effects.
Scientists observed that each
phenotype is the result of a genotype
developing within a specific
environment. The genotype sets the
potential for development, but how the
phenotype actually develops within the
limits imposed by the genotype depends
on environmental effects. Stated
another way, each genotype may
produce several different phenotypes,
depending on the environmental
conditions in which development takes
place.

GENE INTERACTION WITH

EPISTASIS

CONCORDANCE AND
DISCORDANCE IN TWINS
• Comparisons of dizygotic and
monozygotic twins can be used to
assess the importance of genetic and
environmental factors in producing
 differences in a characteristic. This • The use of twins in genetic research rests
assessment is often made by calculating on the important assumption that, when
the concordance for a trait. If both concordance for monozygotic twins is
members of a twin pair have a trait, the greater than that for dizygotic twins, it is
twins are said to be concordant; if only because monozygotic twins are more
one member of the pair has the trait, the similar in their genes and not because
twins are said to be discordant. they have experienced a more similar
environment.
• Concordance is the percentage of twin
pairs that are concordant for a trait. • The degree of environmental similarity
Because identical twins have 100% of between monozygotic twins and
their genes in common and dizygotic dizygotic twins is assumed to be the
twins have on average only 50% in same. This assumption may not always
common, genetically influenced traits be correct, particularly for human
should exhibit higher concordance in behaviors.
monozygotic twins.
• Because they look alike, identical twins
may be treated more similarly by
parents, teachers, and peers than are
nonidentical twins.

• Evidence of this similar treatment is

seen in the past tendency of parents to
dress identical twins alike. In spite of this
potential complication, twin studies
have played a pivotal role in the study of
human genetics.

• When genes influence the trait, however,

monozygotic twin pairs should exhibit PEDIGREE ANALYSIS
higher concordance than that of
dizygotic twin pairs, because
INTRODUCTION
monozygotic twins have a greater • Pedigrees are used to analyze the pattern
percentage of genes in common. of inheritance of a particular trait
throughout a family. It shows the
presence or absence of a trait as it
• Itis important to note that any relates to the relationship among
discordance (means that a similar trait is parents, offsprings, and siblings. A
not shared between twin members) pedigree chart displays a family tree and
among monozygotic twins is usually due shows the members of the family who
to environmental factors, because are affected by a genetic trait.
monozygotic twins are genetically
identical. • Having knowledge on pedigrees is
important because they can be used to
 study the genetics of inherited diseases
and are often used to do some detective
works. By analyzing a pedigree, we can
determine genotypes, identify
phenotypes, and predict how a trait will
be passed on in the future. The
information from a pedigree makes it
possible to determine how certain
alleles are inherited: whether they are
dominant, recessive, autosomal, or sex- • DARKENED SHAPES DENOTE
linked. AFFECTED INDIVIDUALS.

• Founding parents: I-1 (female)

and 1-2 (male).
CONSTRUCTING A PEDIGREE
• Founding family: I-1, 1-2, II-1, II-2.
IN CONSTRUCTING A PEDIGREE,
• Mating pairs: I-1 & 1-2, 1-2 & 11-
STANDARDIZED SYMBOLS ARE USED SUCH
3, III-2 & III-3.
AS THE FOLLOWING:

DEFINITION OF TERMS

Autosomal chromosomes - The 22

chromosome pairs other than the XX (female) or
XY (male) sex chromosomes.

Hemizygous - Males are “hemizygous” for X-

linked genes - males only have one X
chromosome and one allele of any X-linked
• CIRCLES FOR FEMALES, SQUARES FOR gene.
MALES.
Allele - A version of a gene. Humans have 2
• EACH INDIVIDUAL REPRESENTED BY alleles of all their autosomal genes, females
ROMAN NUMERAL FOR GENERATION, have 2 alleles of X-linked genes, males have one
AND DIGIT FOR INDIVIDUAL. allele of X-linked genes (and one allele of Y -
• VERTICAL LINES CONNECT PARENTS TO linked genes).
CHILDREN.
GENERAL ASSUMPTIONS ON
• HORIZONTAL LINES INDICATE MATING
MAKING PEDIGREE
AND OFFSPRING.
IN THE PEDIGREE CHART SHOWN ABOVE,
THE MODE OF TRANSMISSION OF GENETIC
TRAITS IS CONTROLLED BY ONE GENE, WITH
TWO ALLELES, A DOMINANT ALLELE AND A
RECESSIVE ALLELE.

We also make three simplifying assumptions:

1. Complete Penetrance
 • An individual in the pedigree will 3. An unaffected individual can be a carrier
be affected (express the (have one allele) of a recessive trait.
phenotype associated with a trait) (because two alleles of a recessive trait
when the individual carries at are required for an individual to be
least one dominant allele of a affected)
dominant trait, or two recessive
alleles of a recessive a trait. 4. When a trait is X-linked, a single
recessive allele is sufficient for a male to
be affected. (because the male is
hemizygous - he only has one allele of an
X- linked trait).
2. Rare-in-Population.

• In each problem, the trait in 5. A father transmits his allele of X-linked

question is rare in the general genes to his daughters, but not his sons.
population. Assume for the A mother transmits an allele of X-linked
purposes of these problems that genes to both her daughters and her
individuals who marry into the sons.
pedigree in the second and third
generations are not carriers. This
does not apply to the founding
parents - either or both of the
individuals at the top of the KEY PATTERNS IN PEDIGREE
pedigree could be carriers.
ANALYSIS
• The disease must be RECESSIVE
3. Not-Y-Linked. if any affected individual has 2
unaffected parents. Since this is a
• The causative genes in these
genetic disease at least one
problems may be autosomal or X-
parent must have an allele for the
Linked but are not Y-linked.
disease. If neither parent is
affected, the trait cannot be
dominant. (See Clue 1 above).
5 KEY CLUES
1. An unaffected individual cannot have
any alleles of a dominant trait because a • AUTOSOMAL RECESSIVE: If any
single allele of a dominant trait causes affected founding daughter has 2
an individual to be affected) unaffected parents the disease
must be autosomal recessive. An
2. Individuals marrying into the family are affected individual must inherit a
assumed to have no disease alleles - recessive allele from both
they will never be affected and can never parents, so both parents must
be carriers of a recessive trait. (because have an allele. If the father had a
the trait is rare in the population) recessive X-linked allele, he
would have to be affected (since
he only has one X-linked allele).
 only from the affected father. No
child could be affected by a single
• RECESSIVE: If an affected
autosomal recessive allele, or X-
founding son has 2 unaffected
linked recessive allele, so the trait
parents, we cannot determine if
is dominant.
the recessive disease is
autosomal or x-linked. If the trait
is autosomal, both parents can
• When an affected son of non-
be unaffected carriers of the
founding parents has an affected
disease. If the trait is x-linked, the
father the disease must be
son must have inherited his allele
AUTOSOMAL DOMINANT. A
from his mother only, and his
father does not transmit X-linked
father can be unaffected.
alleles to a son, so the disease
cannot be X-linked dominant.

• X-LINKED RECESSIVE: When an

affected non-founding son has 2
• When an affected daughter of
unaffected parents the disease
non-founding parents has an
must be X-linked recessive. The
affected father, we cannot
father, who is marrying in, does
determine whether the
not have any disease alleles,
DOMINANT disease is autosomal
since he is marrying into the
or x-linked. The affected father
family; hence, the affected son
can transmit either an autosomal
inherits an allele only from his
dominant allele, or an X-linked
unaffected mother. A male
dominant allele to his daughter.
cannot be affected by a single
autosomal recessive allele, but
can be affected by a single X-
linked recessive allele.
Before you start making a
pedigree chart, you must:
1. Determine whether the trait is dominant or
recessive.
PATTERNS THAT INDICATE A • If the trait is dominant, one of the
DOMINANT TRAIT parents must have the trait.
Dominant traits will not skip a
• The disease must be DOMINANT
generation. If the trait is
if every affected child of NON-
recessive, neither parent is
FOUNDING parents has an
required to have the trait since
affected parent.
they can be heterozygous.

• The unaffected mother, who is

2. Determine if the chart shows an autosomal or
marrying in, does not carry an
sex-linked (usually X- linked) trait.
allele for the disease; so the
affected child inherits an allele
 • For example, in X-linked recessive • X-linked recessive traits appear
traits, males are much more more frequently in males than in
commonly affected than females. When a woman is a
females. In autosomal traits, both heterozygous carrier for an X-
males and females are equally linked recessive trait and a man is
likely to be affected (usually in unaffected, approximately half of
equal proportions). their sons will have the trait and
half of their daughters will be
unaffected carriers.
CONCLUSIONS AND SUMMARY
• X-linked traits are not passed on
• Constraints on the genetic study from father to son. X-linked
of human traits include the dominant traits appear in males
inability to conduct controlled and females but more frequently
crosses, long generation time, in females. They do not skip
small family size, and the generations. Affected men pass
difficulty of separating genetic an X-linked dominant trait to all of
and environmental influences. their daughters but none of their
Pedigrees are often used to study sons. Heterozygous women pass
the inheritance of traits in the trait to half of their sons and
humans. half of their daughters.

• Autosomal recessive traits • Y-linked traits appear only in

typically appear with equal males and are passed from father
frequency in both sexes and tend to all sons.
to skip generations. When both
parents are heterozygous for a
particular autosomal recessive
trait, approximately one-fourth of
their offspring will have the trait.
Recessive traits are more likely to
appear in families with
consanguinity (mating between
closely related persons).

• Autosomal dominant traits

usually appear equally in both
sexes and do not skip
generations. When one parent is
affected and heterozygous for an
autosomal dominant trait,
approximately half of the
offspring will have the trait.
Unaffected people do not
normally transmit an autosomal
dominant trait to their offspring.