LECTURE 02

BASIC PRINCIPLES OF HEREDITY

LEARNING OUTCOME
AT THE END OF THIS LECTURE STUDENTS
SHOULD BE ABLE TO EXPLAIN COMMON
TERMINOLOGIES IN CLASSICAL GENETICS,
THE LAWS OF SEGREGATION AND
INDEPENDENT ASSORTMENT, BACK CROSS
AND TEST CROSS, THE USE OF BRANCH
DIAGRAM; SOLVE MATHEMATICAL
PROBLEMS ON INHERITANCE; AND CARRY
OUT SIMPLE EXPERIMENTS RELATED TO
MENDELIAN PRINCIPLES.
 TOPICS

1. Summary of important genetic

terms
2. Monohybrid crosses
3. Dihybrid crosses
 Gregor Mendel
• 1866 - Mendel’s paper was published.
• 1884 - He died at the age of 61, unrecognized
for his contribution to genetics.
• 1900 - Hugo de Vries, Erich von Tschermak,
and Carl Correns—began independently
conducting similar experiments with plants
and arrived at conclusions similar to those of
Mendel.
Mendel’s approach to the study of heredity
was effective for several reasons.
• Choice of experimental subject, the pea plant
Pisum sativum
– easy to cultivate,
– grow relatively rapidly
– produce many offspring
– large number of varieties
– seven characteristics that he chose
• Adopted an experimental approach and
interpreted his results by using mathematics
 Summary of important
genetic terms
Term Definition
Gene A genetic factor (region of DNA) that
helps determine a characteristic
Allele One of two or more alternate forms
of a gene
Locus Specific place on a chromosome
occupied by an allele
Genotype Set of alleles possessed by an
individual organism
 Summary of important
genetic terms
Term Definition
Heterozygote An individual organism possessing
two different alleles at a locus
Homozygote An individual organism possessing
two of the same alleles at a locus
Phenotype or The appearance or manifestation
trait of a character
Character or An attribute or feature
characteristic
 Monohybrid crosses
a. Principle of segregation and the concept
of dominance
b. Relating genetic crosses to meiosis
c. Predicting outcomes of genetic crosses
d. The test cross
e. Genetic symbols
• Conclusion: The traits of the parent plants do
not blend. Although F1 plants display the
phenotype of one parent, both traits are
passed to F2 progeny in a 3 : 1 ratio.
 Comparison of the principles of
segregation and independent assortment
Principle Observation Stage of
Meiosis
Segregation 1. Each individual Before
(Mendel's first law) organism possesses meiosis
two alleles encoding a
trait.
2. Alleles separate when Anaphase I
gamets are formed.
3. Alleles separate in Anaphase I
equal proportions.
Independent Alleles at different loci Anaphase I
assortment separate independently.
(Mendel'second law)
 CONCEPTS
• The principle of segregation states that each
individual organism possesses two alleles that
can encode a characteristic.
• These alleles segregate when gametes are
formed, and one allele goes into each gamete.
• The concept of dominance states that, when
the two alleles of a genotype are different, only
the trait encoded by one of them—the
“dominant” allele—is observed.
• Relating Genetic Crosses to
Meiosis

• Segregation results from the

separation of homologous
chromosomes in meiosis.
Predicting the Outcomes of Genetic Crosses

• The Punnett square

• Probability as a tool in genetics
The Punnett square can be used to determine
the results of a genetic cross.
• For simple monohybrid crosses, the Punnett
square is simpler than the probability method
and is just as easy to use.

• However, for tackling more-complex crosses

concerning genes at two or more loci, the
probability method is both clearer and quicker
than the Punnett square.
 The Testcross
• A useful tool for analyzing genetic crosses is
the testcross, in which one individual of
unknown genotype is crossed with another
individual with a homozygous recessive
genotype for the trait in question.

• A testcross tests, or reveals, the genotype of

the first individual.
The Testcross
one individual of unknown
genotype is crossed with
another individual with a
homozygous recessive
genotype for the trait in
question.

reveals, the genotype of the

first individual.

any recessive allele in the

unknown genotype is
expressed in the progeny,
because it will be paired with
a recessive allele from the
homozygous recessive parent.
 CONCEPTS
• A testcross is a cross between an individual
with an unknown genotype and one with a
homozygous recessive genotype. The outcome
of the testcross can reveal the unknown
genotype.
 Genetic Symbols
• As we have seen, genetic crosses are usually
depicted with the use of symbols to designate the
different alleles.
• Lowercase letters are traditionally used to designate
recessive alleles, and uppercase letters are for
dominant alleles.
• Two or three letters may be used for a single allele:
– the recessive allele for heart-shaped leaves in cucumbers
is designated hl, and the recessive allele for abnormal
sperm-head shape in mice is designated azh.
• The common allele for a character—called the wild type because it is the
allele usually found in the wild—is often symbolized by one or more letters
and a plus sign (+).
• The letter or letters chosen are usually based on the mutant (unusual)
phenotype.
• For example, the recessive allele for yellow eyes in the Oriental fruit fly is
represented by ye, whereas the allele for wild-type eye color is
represented by ye+.
• At times, the letters for the wild-type allele are dropped and the allele is
represented simply by a plus sign.
• In another way of distinguishing alleles, the first letter is lowercase if the
mutant phenotype is recessive and it is uppercase if the mutant phenotype
is dominant:
– for example, narrow leaflet (ln) in soybeans is recessive to broad leaflet (Ln).
• Superscripts and subscripts are sometimes added to distinguish between
genes:
– Lfr1 and Lfr2 represent dominant mutant alleles at different loci that produce
lacerate leaf margins in opium poppies;
– ElR represents an allele in goats that restricts the length of the ears.
 DIHYBRID CROSSES
a. Principle of Independent Assorment
b. Relating genetic crosses to meiosis
c. Applying Probability and The Branch Diagram
to Dihybrid Crosses
d. The Dihybrid Tescrosses
The Principle of
• Experiment
Independent – Question: Do alleles
Assortment encoding different traits
separate independently?
• Conclusion: The allele encoding color
separated independently of the allele
encoding seed shape, producing a 9 : 3 : 3 : 1
ratio in the F2 progeny.

• Fig 3.10 Mendel’s dihybrid crosses revealed

the principle of independent assortment.
Relating the Principle of Independent
Assortment to Meiosis
 CONCEPTS
• The principle of independent assortment states that
genes encoding different characteristics separate
independently of one another when gametes are
formed, owing to the independent separation of
homologous pairs of chromosomes in meiosis. Genes
located close together on the same chromosome do
not, however, assort independently.
• How are the principles of segregation and
independent assortment related and how are they
different?
Applying Probability and the Branch Diagram
to Dihybrid Crosses
The Dihybrid Testcross
A branch diagram can be used to determine the phenotypes and expected
proportions of offspring from a dihybrid testcross (Rr Yy rr yy).
 SEE YOU NEXT WEEK
ON LECTURE 03

EXTENSION AND MODIFICATION

OF BASIC PRINCIPLES