Mendelian Inheritance

Objectives
n Recognize the importance of Mendel’s work to
the study of inheritance.
n Construct Punnett square diagrams of one and
two factor crosses to predict phenotypic and
genotypic ratios of offspring.
n Analyze pedigree diagrams for patterns of
inheritance.
n Apply the laws of probability to the study of
patterns of inheritance.
n To use the chi-square test to test the validity of
a hypothesis.
Mendel’s Laws of Inheritance

Gregor Mendel
 Pea Plants as an Experimental
Organism
n Prior to Mendel, plant breeders crossed distinct
individuals to produce hybrids.
n process is called hybridization
n Mendel used the garden pea (Pisum sativum) as
his experimental system.
n existed in several varieties with easily recognizable
characteristics
n pea plants can be easily mated
n Cross-fertilization involves the use of two
parents.
n allowed selective breeding of pea plants to produce
desired hybrids
Mendel’s crosses involving tall and dwarf varieties of peas.
 The Traits of the Pea Plant that
Mendel Studied
n Mendel chose varieties of pea plants that had
distinct morphological differences in their traits
n These lines were true-breeding -did not show
any variation in the trait over time.
n Mendel identified seven traits that existed in two
variants
n flower color, flower position, seed color, seed shape,
pod shape, pod color,
height
n Mendel conducted crosses between variants of a
single trait.
n called a monohybrid or single-factor cross
Traits of Pea Plant Studied by Mendel
 Single-Factor Crosses
n Mendel conducted experiments to determine the
mathematical relationship between hereditary traits.
n In a single-factor cross the parental generation (P
generation) is a true-breeding line for the variant of the
trait being studied (purple flower color, tall height, etc.)
n The offspring of the parental generation are called the first filial
(F1) generation.
n The offspring of the F1 generation are called the second filial
(F2) generation.
n Mendel’s single-factor cross followed the following steps
n Two true-breeding lines were crosses that differed only for one
trait.
n The F1 generation are allowed to self-fertilize, producing an F2
generation.
Mendel observes that the recessive trait “disappears” in
the 2nd generation and reappears in the next
Mendel observes that the recessive trait “disappears” in
the 2nd generation and reappears in the next
Mendel observes that the recessive trait “disappears” in
the 2nd generation and reappears in the next
Studying different genes gave Mendel the same 3 to 1 ratio

705:224 3.15 to 1

651:207 3.14 to 1

6022:2001 3.01 to 1

5474:850 2.96 to 1
n The data from these experiments yielded the following
information regarding inheritance:
n The F1 generation did not exhibit blending.
n It showed that one of the traits was dominant over the other
(recessive) trait.
n The dominant trait was always displayed in the F1 generation.
n In the F2 generation the dominant trait was present in the
majority (75%) of the plants, while the recessive trait was
present in the minority (25%) of the plants.
n The genetic information is passed on from one generation to the
next as “unit factors,” which are now called genes.
n This supported the particulate theory of inheritance which
suggests that the units governing traits remain unchanged
(unblended) from generation to generation.
n The 3:1 ratio of dominant to recessive offspring in the F2
generation suggested that each parent possesses two traits,
which segregate during the formation of gametes.
n Mendel was the first to apply quantitative analyses to the study
of inheritance.
Symbolic representation of the cross between tall and dwarf peas.
 Mendel’s Law of Segregation
n Mendel was unaware of the concept of DNA or genes.
n the term gene was first introduced by Wilhelm Johannsen
n genes reside on chromosomes
n the variants in the traits are due to versions of the gene called
an allele
n Mendel’s law of segregation: The two copies of a gene
segregate from each other during transmission from
parent to offspring.
n Alleles for a gene are typically represented using
uppercase (for the dominant trait) and lowercase (for
the recessive trait) letters. E.g AA and aa
n The genotype is the genetic combination of an
individual.
n homozygous indicates individuals with two identical alleles
n heterozygous indicates individuals with two different alleles
n The observable characteristics of an organism are called
the phenotype.
 Punnett Square
n To predict the types of offspring the parents will produce
and the proportion of the trait in the offspring.
n Steps for preparing a Punnett Square
n write down the genotypes of both parents
n write down the possible gametes that each parent can produce
n create an empty Punnett square in which the number of columns
= no of male gametes, no of rows == no of female gametes
n fill in the possible genotypes of the offspring by combining the
alleles of the gametes in the empty boxes
n determine the relative proportions of the genotypes and
phenotypes
 Two-Factor Crosses

n Mendel conducted
crosses using two-factors
n In a two-factor cross
there are two possibilities
of how the traits can be
inherited
n They may be linked to one
another and inherited as a
single unit.
n They may be unlinked and
assort themselves
independently during
inheritance.

Mendel’s crosses between peas that produced yellow, round seeds

and peas that produced green, wrinkled seeds.
n Experimental system followed same pattern as single-
factor cross.
n Two true-breeding lines were selected that were different with
regards to two different traits (seed shape, seed color).
n The F1 plants were allowed to self-fertilize.
n The phenotypic ratio of the F2 generation was determined.
n Mendel’s experimental data indicated the following:
n The F2 generation of seeds possessed a 9:3:3:1 phenotypic
ratio,
n Mendel’s law of independent assortment states that two
different genes will randomly assort their alleles during
the formation of haploid reproductive cells.
n Independent assortment means that a single individual
can produce a vast array of genetically different
gametes.
 Punnett Square and Independent
Assortment
n For a two-factor
cross, each
parent can
produce four
types of
gametes.
n Punnett square
would have 16
cells (4 rows x 4
columns).

Symbolic representation of the results of a cross

between a variety of peas with yellow, round
seeds and a variety with green, wrinkled seeds.
n Process is the
same as the
single-factor
Punnett
square
n Punnett
squares are
not practical
for more than
two traits.

The forked-line method for predicting the outcome of an intercross

involving three independently assorting genes in peas.
n The forked-line
method or
multiplication method
are more useful for
larger crosses.
n The dihybrid test
cross involves using
an individual who is
homozygous
recessive for both
traits in the cross.

The forked-line method for predicting the outcome

of a testcross involving three independently
assorting genes in peas.
 n A pedigree
(family tree) is
used to examine
inheritance
patterns in
humans.
n often used to
study human
disease

(a) Pedigree conventions. (b)

Inheritance of a dominant trait ( c)
inheritance of a recessive trait