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.
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
 The Correlation of Mendel’s Postulates with the
Behavior of Chromosomes Formed the
Foundation of Modern Transmission Genetics

Genes come in pairs – One gene

carries two alleles
What would happen if
segregation is irregular?
 POLYPLOIDY

• The presence of extra chromosome sets

• Quite common in plants, very rare in animals.
• Effect of polyploidy - offsprings are bigger in size - most
probably because the number of chromosome is bigger.
• Bigger seeds, bigger fruits, bigger flowers, greater yields.
• Very beneficial in agriculture.
 ANEUPLOIDY
Describes a numerical change in part of the genome – usually a
change in the dosage of a single chromosome.
Individuals who have an extra chromosome, are missing a
chromosome or a piece of chromosome or have a combination of
these anomalies are said to be aneuploid.

Trisomy 21
Down syndrome – a condition associated with an extra chromosome
21 (as a result of trisomy – triplication).
Discovered by British physician, Langdon Down, in 1866 but its
chromosomal basis was only understood in 1959.
People with Down syndrome are typically short and loose-jointed
(particularly in the ankles), have broad skulls, wide nostrils, large
tongues and stubby hands with a crease on the palm.
Total chromosomes = 47
Karyotype: 47, XX, +21
Triplo-X karyotype
47, XXX – triplication in the X chromosome.
Individuals survive because 2 out of 3 X chromosomes are inactive –
reduces the dosage of the X chromosome so that it approximates the
normal level of one.
Triplo-X individuals are female, phenotypically normal – but
sometimes exhibit slight mental impairment and reduced fertility.

Klinefelter syndrome
47, XXY – 3 sex chromosomes.

Discovered by H. F. Klinefelter in 1942.

Individuals are male (phenotypically) but can show some female

secondary sexual characteristics (large breasts, long limbs and
underdeveloped body hair) and are usually sterile (small testes).
Total chromosomes = 47
Karyotype: 47, XXY.
Monosomy in Human Beings
Turner syndrome

Was first described by Henry H. Turner in 1938.

As a result of monosomy – 1 chromosome is missing in a diploid

individual.

45, X – have a single X chromosome as well as a diploid

compliment of autosomes.

Individuals are female, almost always sterile, short in stature,

have webbed necks, hearing deficiencies and significant
cardiovascular abnormalities.
Deletion of chromosome
Cri-du-chat syndrome
Comes from the French words for “cry of the cat”.
46, (-5p) – normal chromosome number (46) but has a deletion of
the short arm (p) of chromosome 5.

Individuals are severely impaired (mentally and physically) and

have catlike cries.
Cri-du-chat syndrome
[46, (-5p)]
Examples of Mendelian Inheritance in human
1.Skin abnormal – homozygous recessive individual
a. Albinisme
•Blockage of metabolism pathway (melanine cannot be produced)
•Only small amount of dark pigment.

b. Xeroderma pigmentosum
•Growth of tumor when exposed to sun light.

2.Blood disease – recessive

a. Sickle-cell anemia (black skin)
•Blood cell – sickle shape.
•Sickle cell – short life.
•Hemoglobin abnormal in the red blood cell.

b. Thalasemia (anemia Cooley) – tropics

•Incomplete balance between α and β hemoglobin.

3.Mental disease – recessive

a. Phenylketonuria
•Absence of phenylalanine hydroxylase enzyme to convert phenylalanine into
tyrosine (accumulation of phenylalanie).
•Other examples for human recessive traits – alkaptonuria, cystic fibrosis, Tay-
Sachs disease.

•Examples for dominant traits:

- ability to taste phenylthiolcarbamide (PTC).

- abnormal phenotypes of body parts:

i. Brachydactyly (dominant phenotype of short hand/leg fingers).
ii. Polydactyly (numbers of hand/leg fingers more than five).