Mendelian Genetics

Prof. Ma. Severa Fe S. Katalbas

Division of Biological Sciences
College of Arts and Sciences
University of the Philippines in the Visayas
Gregor Johann • Born Johann Mendel in 1822 in the central
Mendel European village of Heinzendorf.
• Admitted to the Augustinian Monastery of St.
Thomas in Brno, now part of the Czech Republic
in 1843. He took the name Gregor.
• In 1849, he was relieved of pastoral duties and
accepted a teaching appointment.
• From 1851 to 1853 he attended the University
of Vienna, where he studied physics and botany.
• In 1854, he returned to Brno, where he taught
physics and natural sciences.
• In 1856, he performed his first set of
hybridization experiments with the garden pea,
Pisum sativum.
• In 1865 he reported the results of his
experiments. These were published in 1866.
• In 1868 he was elected abbot of the monastery.
• In 1884 he died of a kidney disorder.
 Mendel’s experimental design
and analysis

Model organism:
garden pea (Pisum sativum)
 Mendel followed 7 visible features
(unit characters)

6 - 7 ft. ¾ - 1 ft.
 Mendel’s experiments
• From local seed merchants, he obtained
true-breeding strains. (True breeding – strains
in which each trait appeared unchanged generation
after generation in self-fertilizing plants.)

• He restricted his examination to one or

very few pairs of contrasting traits in
each experiment.

• He kept accurate quantitative records.

• From the analysis of his data, he derived

certain postulates that have become the
principles of transmission genetics.
 Mendel’s experiments
The results of Mendel’s experiments were not appreciated
until the 1900s for the following reasons:

1. Before Mendel’s experiments, biologists were

concerned with explaining the transmission of traits with
continuous variations.
2. There was no physical element identified with
Mendel’s inherited entities.
3. Mendel worked with large numbers of offspring and
converted these numbers to ratios. Biologists at that
time were not well trained in mathematical tools.
4. Mendel was not well known and did not persevere in his
attempts to convince the academic community that his
findings were important.
Mendel and his garden peas
What did Mendel do?
 What did Mendel do?
• He crossbred plants that had discrete,
nonoverlapping characteristics and observed the
distribution of these characteristics over the next
several generations.
• Reciprocal crosses were made to determine
whether the results were independent of the
parents’ sex.
• Offspring of the cross of the P1 generation,
known as the F1, were then self-fertilized to
produce the F2 generation.
 Results of Mendel’s experiments

Character Contrasting F1 results F2 results F2 ratio

traits
Seeds Round / All round 5,474 round
wrinkled 1,850 wrinkled 2.96 : 1
Seeds Yellow / green All yellow 6,022 yellow
2,001 green 3.01 : 1

Seeds Full / All full 882 full

constricted 299 constricted 2.95 : 1
 Results of Mendel’s experiments
Character Contrasting traits F1 results F2 results F2 ratio

Pods Green / yellow All green 428 green

152 yellow 2.82 : 1
Pods Axial / terminal All axial 651 axial
207 terminal 3.14 : 1
Flowers Violet / white All violet 705 violet
224 white 3.15 : 1
Stem Tall / dwarf All tall 787 tall
277 dwarf 2.84 : 1
 Mendel’s generalizations
1. All F1 offspring were identical to one of the
parents.
2. In the F2 offspring, an approximate ratio of 3:1
was obtained. ¾ appeared like the F1 plants,
while ¼ exhibited the contrasting trait, which
had disappeared in the F1 generation.
3. In each, the F1 and F2 patterns of inheritance
were similar regardless of which P1 plant
served as the sources of pollen, and which
served as the source of the ovum. Reciprocal
crosses produced the same results.
Mendel’s First Postulate – genetic characters are
controlled by unit factors (now called genes) that
exist in pairs in individual organisms.
Mendel’s Second Postulate – 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
recessive.
Reappearance of the recessive trait
disproves “blending”.
Mendel’s Third Postulate – 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.
 Modern Genetic Terminology

• Phenotype – physical appearance of a trait.

• Genotype – the genetic makeup of an individual.
• Phenotypic ratio
• Genotypic ratio
• Gametic ratio
 Punnett Squares
• Each of the possible gametes is assigned to a column or
row, with the vertical column representing those of the
female parent and the horizontal row those of the male
parent.

• After entering the gametes in rows and columns, the new

generation is predicted by combining the male and
female gametic information for each combination and
entering the resulting genotypes in the boxes.

• This process lists all possible random fertilization events.

The Test Cross : One Character
• The organism expressing the dominant
phenotype, but of unknown genotype, is
crossed to a homozygous recessive
individual.

• The test cross reinforce Mendel’s

conclusion that separate unit factors
control the Mendelian traits.
The Dihybrid Cross
 Mendel’s Fourth Postulate :
Independent Assortment
During gamete formation, segregating pairs of unit
factors assort independently of each other.
• As a result of 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, all possible combinations of gametes are
formed in equal frequency.
 The Forked-Line Method
• Uses the application of the laws of
probability established for the dihybrid
cross.
• Each gene pair is assumed to behave
independently during gamete formation.
• It is also assumed that fertilization,
following the independent assortment of
gene pairs during gametogenesis, is a
random process.
 Concept of Probability

Probability – the chance that an event will happen

the number of events that can produce a given outcome

Probability = --------------------------------------------------------------------------------------
the total number of possible outcomes
 Rules of Probability
• Product Rule:
The probability of independent events
happening together is equal to the product
of their individual probabilities:
P (A and B) = P (A) x P (B)
• Sum Rule:
The probability of mutually exclusive
events together is the sum of their
individual probabilities:
P (A or B) = P (A) + P (B)
Inheritance of Skin Pigmentation in Man
 Inheritance of Skin Pigmentation in Man
Given: P1 AA x aa genotype
normal albino phenotype
A (1) a (1) gametes & probability

F1 Aa genotype
Normal phenotype
(1 x 1 = 1) probability

Aa x Aa genotype
normal normal phenotype

A (1/2) + a (1/2) gametes & probability

A (1/2) + a (1/2)

AA (1/4) + Aa (1/4) + aA (1/4) + aa (1/4) =

¼ AA + ½ Aa + ¼ aa = ¾A + ¼a

F2 genotypic ratio F2 phenotypic ratio

The Rediscovery of Mendel’s Work
• In 1879, Flemming described the behavior of
chromosomes during cell division.

• In th 1900s, hybridization experiments similar to

Mendel’s were performed independently by 3
botanists: Hugo de Vries, Carl Correns and Erich
Tschermak.

• They reached conclusions similar to those of

Mendel.
 The Rediscovery of Mendel’s work
• In 1902, Walter Sutton and Theodor Boveri
independently published papers linking their discoveries
of the behavior of chromosome 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.

• This became the basis of the CHROMOSOMAL

THEORY OF INHERITANCE which says “Genes are
located at fixed positions on chromosomes in a linear order”.
Human Pedigrees

trait
Conventions used in constructing pedigrees

• Circles represent females.

• Squares represent males.
• Diamonds are used if the sex is unknown.
• If a pedigree traces only a single trait, the circles,
squares, and diamonds are shaded if the phenotype
being considered is expressed.
• Those who fail to express a recessive trait, when known
with certainty to be heterozygous, have only the left half
of the square or circle shaded.
• Parents are connected by a horizontal line and vertical
lines lead to their offspring.
Conventions used in constructing pedigrees
• All offspring are called sibs and are connected by a
horizontal sibship line. Sibs are placed from left to right
according to birth order and are labeled with Arabic
numerals.
• Each generation is indicated by a roman numeral.
• Twins are indicated by diagonal lines from the vertical
line connected to the sibship line.
• For monozygotic or identical twins, the diagonal lines are
linked by a horizontal line.
• Dizygotic or fraternal twins lack this connecting line.
• A number with one of the symbols represents numerous
sibs of the same or unknown phenotypes.
• The individual whose phenotype drew the attention of a
physician or geneticist is called the proband and is
indicated by an arrow connected to the designation p.
Human Pedigrees
That’s all, folks!
Have a nice day…