MBG 211

Genetics

Mendelian Inheritance

Assoc. Prof. Pınar ÖZ, PhD

GREGOR MENDEL
Pisum sativum (garden pea)
 GREGOR MENDEL

• The science of genetics has ancient roots – although these

first attempts were not as accurate as today.
• The historical roots of genetics, the science of heredity date
back to ancient attempts at selective breeding.
• Experimental genetics began in an abbey garden, in Brno,
Moravia, Austrian-Hungarian Empire (now Czech Republic), with
Gregor Mendel’s quantitative experiments with pea plants (1856-
1865).
 GREGOR MENDEL
• Experimental genetics began in an abbey garden, in Brno, Moravia, Austrian-Hungarian Empire (now Czech
Republic), with Gregor Mendel’s quantitative experiments with pea plants (1856-1865).

• He explained his results in two seminars (to an audience of local scientists) and published the results later. The
value of his work wasn't understood during his time and rediscovered by scientists in early 1900.

Petal

Stamen
Carpel
 Mendel’s Experiments

• Mendel crossed pea plants that

differed in certain characteristics
and traced traits from generation
to generation.

• What is so important about his

approach?
– The way he used scientific
methodology to explain his
observations.

• Two types of plant fertilization:

– Self-fertilization
– Cross-fertilization
BASIC TERMS
 Basic Terms of Genetics

• Mendel hypothesized that there are

alternative forms of genes, the units that
determine heritable traits.

• The term “gene” was coined by Wilhelm

Johanssen (1909), while William Bateson
is the first scientist to use the term
“genetics” (1905).

• Character : Specific property of an

organism (characteristic) (trait).
 Basic Terms of Genetics

• A pure line is a population that breeds true for (shows no variation

in) the particular character being studied. ( = true breeding)

• All offspring of a pure line is produced by self-fertilization or

crossing within the population are identical in this character.

• Character difference : A contrasting difference between two lines

of organisms (or between two organisms) in one particular
character (e.g. flower color  purple and white flower).

• The differing lines (or individuals) represent the different forms that
the character may take → character forms, character variants, or
phenotypes.
 Basic Terms of Genetics

Pure lines

First filial generation

Second filial generation

Mendel's counts : Phenotype

705 purple
224 white
DOMINANT RECESSIVE
 Monohybrid crosses

Monohybrid Cross:
Cross-fertilization only for
one character
Monohybrid:
Hybrid of two pure lines
only for one character

Pure lines

Character : Plant body length

Phenotypes : Tall, dwarf
Monohybrid : F1 progeny

A monohybrid of two pure lines will

always have the phenotype of the
dominant.
Monohybrid Cross
MENDEL’S PRINCIPLES
 Mendel's explanations / deductions

1. The existence of genes : Carrier particles for traits. (The word «gene» was introduced by Wilhelm Johanssen, not Mendel.)

2. Genes are in pairs : Genetic characters are controlled by unit factors existing in pairs in individual organisms. In the monohybrid cross involving tall
and dwarf stems, a specific unit factor exists for each trait. Each diploid individual receives one factor from each parent. Because the factors occur in
pairs, three combinations are possible: (1) two factors for tall stems, (2) two factors for dwarf stems, or (3) one of each factor. Every individual
possesses one of these three combinations, which determines stem height.

3. 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.

4. Halving of gene pairs in gametes : Each gamete carries only one member of each gene pair.

5. Equal 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 [Link] members of the gene pairs segregate (separate) equally into the gametes. (50% - 50%)

6. Random fertilization : The union of one gamete from each parent to form the first cell (zygote) of a new progeny individual is random (gametes
combine without regard to which allele is carried) .
 Mendel’s Principles

1. The Principle of Dominance: In a heterozygote, one allele may conceal the presence of another.

2. The Principle of Segregation: In a heterozygote, two different alleles segregate from each other during
the formation of gametes.
– The two members of a gene pair segregate from each other into the gametes; so half the gametes carry
one member of the pair and the other half of the gametes carry the other member of the pair.

3. The Principle of Independent Assortment: The alleles of different genes segregate, or as we sometimes
say, assort, independently of each other.
– Different gene pairs assort independently in gamete formation.
– In other words, gene pairs on different chromosome pairs assort independently at meiosis.
 The Principle of Dominance
• Genes (and variation of genes – alleles) are carried on chromosomes. For each characteristic, an organism inherits
two alleles, one from each parent.
• Homologous chromosomes bear the two alleles for each characteristic alternative forms of a gene that reside at
the same locus on homologous chromosomes.
• If the two alleles of an inherited pair differ, then one determines the organism’s appearance and is called the
dominant allele. The other allele has no noticeable effect on the organism’s appearance and is called the
recessive allele.
 The Principle of Equal Segragation
Homozygotes
• Symbolic representation for a dominant
phenotype is commonly shown with
UPPERCASE letter (e.g. D).

• Recessive phenotypes are shown with

Heterozygotes
lowercase letters (e.g. d).

=
• Before the cross, we look at the Monohybrid
possible types of gametes.
– Pure lines (homozygotes) produce
only one type of gametes (e.g. D or
d).
– Heterozygotes can produce two
types of gametes.
The Principle of Equal Segregation
• Mendel’s law of segregation predicts that allele pairs
separate from each other during the production of
gametes.

Yellow and green seeds

→ 1:2:1 ratio (genotype)
→ 3:1 ratio (phenotype)

Punnett
Square
 An example – from phenotype to genotype
P : dominant allele
p : recessive allele
Wild-type
Homozygous Homozygous
dominant recessive Mutant

PP pp
anthocyanin
(a pigment that gives the purple color in petals)

P/P → active enzyme (both copies WT) → anthocynanin

Heterozygous
P/p → active enzyme (one copy WT) → anthocynanin
dominant

PP Pp Pp pp

p/p → no active enzyme (both copies WT) → - - -

Dihybrid Crosses

Two traits : Seed color, seed texture

Hybrid for two traits : Dihybrid

Dihybrid Cross
Comparison of Observed and Expected Results in the F2

9:3:3:1
PREDICTING INHERITANCE
 Applications of Mendel’s Principles

Mendel’s principles can be used to predict the outcomes of crosses between different strains of organisms.

Three methods to predict outcomes

1. The Punnett Square Method

2. The Forked-Line Method

3. The Probability Method

 The Punnett Square Method

• One of the easiest ways to calculate the

mathematical probability of inheriting a
specific trait.

• Invented by an early 20th century

English geneticist named Reginald
Punnett.
The Forked-Line Method for an Intercross
The Forked-Line Method for a Testcross
 Probability

The probability of an event is the

frequency of that event in the sample
space.

For a coin toss:

The probability of heads is 1/2.
The probability of tails is 1/2.

For two heterozygotes (Gg) producing an

offspring:
The probability of GG is 1/4.
The probability of Gg is 1/2. ¼ AA : ½ AA : ¼ aa
The probability of gg is 1/4.
 The Multiplicative Rule

If the events A and B are independent, the probability that they will occur together, denoted P(A and
B), is P(A)  P(B).

Example: probability of drawing the ace (A) of hearts (H), P(A and H)

P(A) = 4/52 P(H) = ¼

P(A)  P(H) = 4/52  1/4 = 1/52

 The Additive Rule
If the events A and B are independent, the probability that at least one of them occurs, denoted P(A or B),
is given by P(A) + P(B)  [P(A)  P(B)].

Example: Probability of a drawing an ace OR a heart, P(A or H)

P(A) = 4/52 P(H) = 1/4
P(A or H) = (4/52)  (1/4)  (4/52  1/4) = 16/52
 The Additive Rule

If the two events do not overlap in the sample space, they are said to be mutually exclusive.

In this case, P(A)  P(B) = 0, and the Additive Rule reduces to

P(A or B) =P(A)  P(B)

Example: probability of drawing an ace or a king, P(A or K)

P(A) = 4/52 P(K) = 4/52

P(A or K) = 4/52  4/52 = 8/52
Example

Aa  A from Mother – a from Father

Homozygote
dominant AA = ½ x ½ = ¼

Heterozygous Aa = ½ x ½ = ¼
aA = ½ x ½ = ¼

P(heterozygous) = P(Aa) + P(aA) = ½

The Probability Rule for an Intercross
 STATISTICAL TESTING
OF INHERITANCE PATTERNS
 Testing Genetic Hypotheses

• Hypothesis: a well-formulated scientific idea.

• Data collected from observations or from experimentation enable scientists to test hypotheses.

• Are the results of a cross consistent with a hypothesis?

H0 (null hypothesis)
H1

Example :
H0 : The genes for seed color and seed shape are inherited independently, and therefore result in
the 9:3:3:1 distribution in the population.
 The Chi-Square Test

How can we determine if our data fits any of the corresponding Mendelian ratios?

• Predict expected numbers based on hypothesis.

• Calculate the 2 statistic.

2 = 
Observed  Expected2
Expected

• Determine the degrees of freedom.

– Degree of freedom (df) : n-1 where n is the number of classes.
• Compare the 2 statistic to the critical value.
Distribution of a χ2 Statistic
Critical value is the 2 value that we have at 0.05
frequency (or probability).
If our value is lower than that this means it is 95% likely
that our hypothesis is true. So, we fail to reject the
hypothesis (or simply accept it).

If the value is larger than critical value, than we reject

the hypothesis.
Distribution of a χ2 Statistic
 Example : Two cases of dihybrid cross (Mendel and deVries)

Mendel’s Dihybrid Cross

DeVries’s Dihybrid Cross

 Null Hypothesis

The observed distribution of phenotypes in F2 generation

can be explained with the simple Mendelian inheritance
for dihybrids, with a ratio 9:3:3:1.
 Comparison to the Critical Value

• Four things to do before looking at the table

– Determine H0 (hypothesis that stated
expected and observed is similar)
– Estimate 2
– What is df? (Degree of freedom, n-1) If 2 exceeds this, the
– Which p value? (How accurate should event is not what you
the conclusion be? ) expected (a.k.a H0).
• E.g. p = 0.05 means you are looking
for an event that occurs in the
population 95% . If you had 100
trials, the trials this event will ocur
in ~95 trials. It is an «expected»
event.
• The exception constitutes 5% of
population.
 Comparison to the Critical Value

• Mendel’s Dihybrid Cross:

 2 = 0.51
 Degrees of Freedom = 4  1 = 3

• DeVries’ Dihybrid Cross:

 2 = 22.91
 Degrees of Freedom = 4  1 = 3
 Comparison to the Critical Value

• Mendel’s Dihybrid Cross:

 2 = 0.51
 Degrees of Freedom = 4  1 = 3
 < 7.815

• DeVries’ Dihybrid Cross:

 2 = 22.91
 Degrees of Freedom = 4  1 = 3
 > 7.815
 Comparison to the Critical Value

• Mendel’s Dihybrid Cross:

 2 = 0.51
 Degrees of Freedom = 4  1 = 3
Mendel’s
 < 7.815 Experiment
 Fail to Reject the Hypothesis 2 = 0.51
PASS
• DeVries’ Dihybrid Cross:
DeVries’s Experiment
 2 = 22.91 2 = 22.94
 Degrees of Freedom = 4  1 = 3 FAIL
 > 7.815
 Reject the Hypothesis
 RESULT

DeVries’ experimental data can not be explained by

simple Mendelian inheritance patterns for dihybrids.
HUMAN GENETICS
AND
MENDELIAN TRAITS
 Mendelian Principles in Human Genetics

• Obstacles to Human Genetic Analysis

– Incomplete family records
– Small number of progeny
– Uncontrolled environment
• Despite these obstacles, many
human genetic traits have been
described.
 Pedigree Conventions

• Pedigrees are diagrams that show the relationships

among the members of a family.
 Inheritance of a Dominant Trait

• Every individual who carries the dominant

allele manifests the trait.

• Every affected individual is expected to

have at least one affected parent.

• If a dominant trait is associated with

reduced viability or fertility,
– Most people who show the trait are
heterozygous.
– Half their children should inherit the
condition.
Inheritance of a Recessive Trait

• Recessive traits may occur in

individuals whose parents are not
affected.

• Rare recessive traits are most likely

to appear in a pedigree when
spouses are related to each other.
Inheritance Patterns on Pedigrees
 Mendelian Segregation in Human Families (Recessive)
CASE : A recessive allele cause cystic fibrosis, a serious
disease in which breathing is impaired by an accumulation
of mucus in the lungs and respiratory tract.
A couple is both heterozygous for this allele. If the couple
were to have four children, would we expect exactly three to
be unaffected and one to be affected by cystic fibrosis?
 Mendelian Segregation in Human Families (Recessive)
CASE : A recessive allele cause cystic fibrosis, a serious
disease in which breathing is impaired by an accumulation
of mucus in the lungs and respiratory tract.
A couple is both heterozygous for this allele. , If the couple
were to have four children, would we expect exactly three to
be unaffected and one to be affected by cystic fibrosis?

No ! Five distinct possibilities:

1. Four unaffected, none affected.

2. Three unaffected, one affected.
3. Two unaffected, two affected.
4. One unaffected, three affected.
5. None unaffected, four affected.
 Mendelian Segregation in Human Families (Recessive)
CASE : A recessive allele cause cystic fibrosis, a serious
disease in which breathing is impaired by an accumulation
of mucus in the lungs and respiratory tract.
A couple is both heterozygous for this allele. , If the couple
were to have four children, would we expect exactly three to
be unaffected and one to be affected by cystic fibrosis?

The outcome of three unaffected children and one affected child 

comprises four distinct events.

U : an unaffected child, A: an affected child

In their order of birth, the possible events would be :

UUUA, UUAU, UAUU, and AUUU

When you have only two phenotypes,you can apply binomial

expansion to the case. (Study the Appendix B in the textbook!)
 Nonpolypoid Colorectal Cancer

What can you say about the inheritance pattern?

HOMEWORKS
 Homework
• Reading Assignment :
– CoG : Chapter 3, PoG : Chapter 3
Homework
Homework
Homework
Homework
Homework
 Additional Problems

• Two pea plants, both with round seeds, are crossed. Round is dominant over wrinkled. You analyze the
offspring from the first two generations of this cross. All the offspring in every case have round seeds. What do
you know about the genotypes of these parents?
• Human genetic analysis has proven to be more difficult than analyzing genetics in plants. Why?
• You have an individual pea plant that demonstrates the dominant phenotype. However, you do not know the
genotype. What is the easiest way to determine the genotype?