CHAPTER 14

MENDEL AND THE GENE IDEA

Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Section A: Gregor Mendels Discoveries
1. Mendel brought an experimental and quantitative approach to genetics
2. By the law of segregation, the two alleles for a character are packaged into
separate gametes
3. By the law of independent assortment, each pair of alleles segregates into
gametes independently
4. Mendelian inheritance reflects rules of probability
5. Mendel discovered the particulate behavior of genes: a review
Mendel chose garden peas as his experimental organism
because:
They were available in many easily distinguishable varieties.
Strict control over mating was possible to ensure the percentage of
new seeds. Pea flowers enclose the carpel and stamens, which
prevents cross-pollination. Immature stamens can be removed to
prevent self-pollination. Mendel hybridized pea plants by
transferring pollen from white flower to a purple flower.
Mendel chose to track only characters in pea plants that varied in
an either or (or clear cut) manner. For example, his plants had
either purple or white flowers; there was nothing in between these
two varieties.
Character: Detectable inheritable feature of an
organism.eg. color
Trait: Variant of an inheritable character.
Fig. 14.1
Mendel observed the transmission of
selected traits for at least three generations
and arrived at two principles of heredity
that are now known as:
(1) The law of segregation and
(2) The law of independent assortment.

When Mendel crossed true-breeding plants with different character
traits, he found that the traits did not blend.
Using the scientific process, Mendel designed experiments in
which he used large sample sizes and kept accurate quantitative
records of the results.
For example, a cross between true-breeding varieties, one with
purple flowers and one with white
flowers produced F1 progeny
(offspring)with only purple flowers.
Hybridization: Mating or
crossing of two varieties.
Monohybrid cross: A cross that
tracks the inheritance of a single character.
By the law of segregation, the two alleles for a
characters are packaged into separate gametes
Fig. 14.2
EXPERIMENT: When Mendel allowed the F
1
plants to self-fertilize
(self-pollinate).
RESULTS: Based on a large sample size, Mendel recorded 705
purple-flowered and 224 white-flowered in the F
2
generation a
ratio of 3:1 The inheritable factor for white flowers was not lost
(reappeared in the F
2
). , so the hypothesis was rejected.
Fig. 14.2
HYPOTHESIS: Mendel hypothesized that if the inhertitable factor for
white flowers had been lost, then a cross between F1 plants should
produce only purple flowered plants.
CONCLUSION: From these types
of experiments and observations,
Mendel concluded that since the
inheritable factor for white flowers
was not lost in the F1 generation, it
must have been masked by the
presence of the purple flowers
factor.
Mendles factor are now called genes and in Mendels terms
Purple flower is the dominant trait
White flower is the recessive trait.
Mendel repeated these experiments with six other
characters and found similar 3 to 1 ratios in the F
2

generations.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Table 14.1
Mendel developed a hypothesis to explain these results that
consisted of four related ideas.
1. Alternative version of genes (different alleles) account for
variations in inherited characters.
For example the gene for flower color in pea plants exists in two
alternative (forms); one for purple color and one for white color.
These alternative versions for a gene are now called alleles.
Fig. 14.3
Today we know that each gene
resides at a specific locus on a
specific chromosome. The DNA at
that locus can vary somewhat in its
sequence of nucleotides, and hence
in its information content. The
purple-flower allele and the white
flower allele are two DNA
variations possible at the flower-
color locus on one chromosome of
one pea plant.
2. For each character, an organism inherits two alleles,
one from each parent.
Mendel deduced that each parent contributes one
factor even though he did not know about
chromosomes or meiosis.
We now know that Mendels factors are genes. Each
genetic locus is represented twice in diploid organisms,
which have homologous pairs of chromosomes, one set
from each parent
These homologous loci may be identical,(have the same
allele,AA or aa) as in the true-breeding plants of the P
generation.
Alternatively, the two alleles may differ ( Aa )
In the flower-color example, the F
1
plants inherited a
purple-flower allele from one parent and a white-
flower allele from the other.
3. If two alleles differ, then one, the dominant
allele, is fully expressed in the organisms
appearance, the other is completely masked
(recessive allele) and has no noticeable effect
on the organism appearance.
Mendels F
1
plants had purple flowers because the
purple-flower allele is dominant and the white-
flower allele is recessive.
Dominant alleles are designated by a capital letter.
A purple flower color
Recessive alleles are designated by a lowercase
letter.
a white flower color

Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
4. The two alleles for each character segregate
(separate) during gamete production.
Without any knowledge of meiosis, Mendel deduced
that a sperm cell or ovum carries only one allele for
each inherited characteristic, because allele pairs
separate (segregate) from each other during gamete
production (meiosis)
Gametes of true breeding plants will all carry the same
allele. If different alleles are present in the parent, there
is a 50% chance that the gametes will receive the
dominant allele and a 50% chance that it will receive
the recessive allele.
THE SEPARATI ON OF ALLELES I NTO
SEPARATE GAMETES I S SUMMARI ZED AS
MENDELS LAW OF SEGREGATI ON.
Mendels law of segregation accounts for the 3:1 ratio
that he observed in the F
2
generation.
The F
1
hybrids (Aa) will produce two classes of
gametes, half with the purple-flower allele (A) and half
with the white-flower allele (a).
During self-pollination, the gametes of these two classes
unite randomly. Ova containing purple-flower alleles
have equal chances of being fertilized by sperm carrying
purple-flower alleles or sperm carrying white-flower
alleles.
Since the same is true for ova containing white flower
alleles, there are four equally likely combinations of
sperm and ovum.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
The combinations resulting from
a genetic cross may be predicted
by using a
Punnett square
of the plants with two alleles for
purple flowers (AA)
of the plants with one allele for
purple flowers and one allele for
white flowers (Aa). Since the
purple-flower allele is dominant,
these plants have purple flowers.
of the plants with two alleles for
white flower color (aa), which
will have white flowers since no
dominant allele is present.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.4
Genetics has some unique, useful vocabulary.
Homozygous: having two identical alleles for a given
character or gene (e.g. AA or aa).
All gametes carry that allele
Homozygotes are true breeding
Heterozygous: having two different alleles for a character
or gene (e.g. Aa).
Half the gametes carries one allele (A) and the
remaining half carries the other (a)
Heterozygotes are not true- breeding.
The pattern of inheritance for all seven of the characteristics studied
by Mendel was the same: one parental trait disappeared in the F1
generation and reappeared in of the F2 generation
Because of dominance and recessiveness, an organisms
appearance does not always reveal its genetic composition,
therefore we should distinguish between:
Phenotype: an organisms expressed trait or organisms
appearance (e.g. purple or white flower)
Genotype: An organisms genetic makeup (AA, Aa or aa)
Fig. 14.5
For flower color in peas, both
PP and Pp plants have the same
phenotype (purple) but different
genotypes (homozygous and
heterozygous).
AA and Aa plants have the
same phenotype (purple) but
different
The Test cross: because some alleles are
dominant over others, the genotype of an
organism may not be apparent,eg:a pea plant
with purple flowers may be either homozygous
dominant,AA or heterozygous,Aa. So we use
A test cross, breeding a
homozygous recessive (aa)
with dominant phenotype,
but unknown genotype,AA
or Aa, so we
can determine the identity
of the unknown allele.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.6
Mendels experiments that followed the
inheritance of flower color or other characters
focused on only a single character via
monohybrid crosses.
He conduced other experiments in which he
followed the inheritance of two different
characters, a dihybrid cross.
By the law of independent assortment, each pair
of alleles segregates into gametes independently
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
In one dihybrid cross experiment, Mendel studied the
inheritance of seed color and seed shape.
The allele for yellow seeds (Y) is dominant to the allele for
green seeds (y).
The allele for round seeds (R) is dominant to the allele for
wrinkled seeds (r).
Mendel crossed true-breeding plants that had yellow, round
seeds (YYRR) with true-breeding plants that has green,
wrinkled seeds (yyrr).
The resulting F1 dihybrid progeny were heterozygous for both
traits (RrYy) and had round yellow seeds, the dominant
phenotypes.
From the F1 generation, Mendel could not tell if the two
characters were inherited independently or not, so he allowed
the F1 progeny to self-pollinate.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Mendel considered two alternate hypothesis:
Hypothesis 1: If the two characters segregate together, the F1
hybrids can only produce the same two classes of gametes
(RY and ry) that they received from the parents, and the F2 progeny
will show a 3:1 phenotypic ratio.
Hypothesis 2: If the two characters segregate independently, the F1
hybrids will produce four classes of gametes (RY, Ry, rY, ry)
And the F2 progeny will show a 9:3:3:1 ratio
Experiment: Mendel performed a dihybrid cross by allowing self-
pollination of the F1 plants (RrYy X RrYy)
Results: Mendel categorized the F2 progeny and determined a ratio
of 315:108:101:32 which approximates 9:3:3:1.
Conclusion: The experimental results supported the hypothesis that
each allele pair segregates independently during gamete formation
Fig. 14.7a
Fig. 14.7b
Mendel repeated the dihybrid cross experiment
for other pairs of characters and always
observed a 9:3:3:1 phenotypic ration in the F
2

generation.
Each character appeared to be inherited
independently.
The independent assortment of each pair of
alleles during gamete formation is now called
Mendels law of independent assortment.
One other aspect that you can notice in the
dihybrid cross experiment is that if you follow
just one character, you will observe a 3:1 F
2

ratio for each, just as if this were a monohybrid
cross.