CHAPTER 22

INHERITANCE
(VARIATION AND
GENETICS)
Figure 14.15
Key
Male Female Affected
male
Affected
female
Mating Offspring
1st
generation
2nd
generation
3rd
generation
1st
generation
2nd
generation
3rd
generation
Is a widows peak a dominant or
recessive trait?
(a) Is an attached earlobe a dominant
or recessive trait?
b)
Widows
peak
No widows
peak
Attached
earlobe
Free
earlobe
FF
or
Ff
WW
or
Ww
Ww ww ww Ww
Ww Ww Ww ww ww ww
ww
Ff Ff Ff
Ff Ff
ff
ff ff ff FF or Ff
ff
Genetics: The branch of Biology in which we study the
inheritance of characters from parents to their offspring. or
scientific study of heredity.
Heredity - passing of traits from parent to offspring
Character: heritable feature
Trait - any characteristic that can be passed from parent to
offspring
Gene: Gene is the basic unit of heredity or biological
information.
Locus: Position of gene on the chromosome is called locus.
Allele: Alternate form of gene is called allele. (dominant &
recessive)


Dominate allele: An allele which is expressed (masks the other) in the
heterozygote & homozygote. represented by a capital letter (R)
Recessive allele: An allele which is present but remains unexpressed
(masked) in the heterozygote. represented by a lowercase letter (r)
Phenotype: Phenotype is the form of appearance of trait.
Genotype genetic makeup or gene combination for a trait (e.g. RR,
Rr, rr)
True-breeding: plants that self-pollinate all offspring are the same
variety, tall plants always produce tall plant and round seeded planta
always produce round seeded plants and so on.
Homozygote pair of identical alleles for a character
Homozygous dominant- BB
Homozygous recessive - bb
Heterozygote two different alleles for a character (Bb)

Population: Group of interbreeding organisms of same
species that exist together in both time and space is
called a population.
Gene pool: All the genes/Alleles found in a breeding
population at a given time are collectively called the
Gene pool.
Monohybrid cross = cross of two different true-
breeding strains (homozygotes) that differ in a single
trait.
Dihybrid cross = cross of two different true-
breeding strains (homozygotes) that differ in two
traits.

P generation (parental) true-breeding
F
1
- (first filial) offspring of P generation
F
2
(second filial) offspring from F
1
cross
Test Cross: A testcross is designed to reveal whether
an organism that displays the dominant phenotype is
homozygous or heterozygous.
Punnett Squares- show how crosses are made.
Probability: probability is chance of an event to
occur


Mendel's Laws of Inheritance
Gregor Mendel:
Mendel is known as Father of Genetics
He laid down the foundation of classical genetics
He has formulated two important laws in genetics i.e., law
of segregation and law of Independent assortment.
He was a priest
Performed series of experiment on garden pea (Pisum
sativum) for 11 years (1854-1865)


Gregor Mendel
1832-1884
Why Mendel choose Garden pea in his experments?

Garden pea has many characters as,..

1. It is hermaphrodite
2. It was normally self fertilized
3. But it could also be crossed fertilized
4. Gape between is short
5. Pea had many sharply distinct traits
6. Each trait had two clear cut alternative form or varieties
7. Mendel called these as contrasting pair or traits
8. Mendel focused on seven such pairs
Mendel studies seven characteristics in the garden pea
11
Seven Pea Plant Traits
Seed shape --- Round (R) or Wrinkled (r)
Seed Color ---- Yellow (Y) or Green (y)
Pod Shape --- Smooth (S) or wrinkled (s)
Pod Color --- Green (G) or Yellow (g)
Flower position---Axial (A) or Terminal (a)
Plant Height --- Tall (T) or Short (t)
Flower color --- Purple (P) or white (p)
copyright cmassengale
1. Mendels Law of Segregation
Monohybrid Cross
According to Mendels Law of Segregation,..
The two coexisting alleles for each trait in an individual
segregate (separate) from each other at meiosis, so that
each gamete receive only one of the two alleles.
Alleles again unite again at random fertilization of gametes
when zygote is formed.
Explanation:
Mendel first established 14 true breeding line or varieties
for each trait.
He crossed fertilized plants that differ in one character only
Such cross were called Monohybrid cross.
He called it First Parental Generation (P1)

Their offspring were called F1 or First Filial Generation
All F1 offspring were round like one of the parents
Wrinkle phenotype did not appear at all
Round dominant wrinkle, its dominance was complete because no
offspring intermediate between parents was found.
He called the trait that appeared in F1 as Dominant, while the trait,
which was masked, as Recessive
Then he allowed self fertilized to raise F2
As a result of monohybrid cross of F2 were round and
wrinkled
He got similar results and same 3:1 in offspring of monohybrid
crosses for all the seven contrasting pairs of traits
He self fertilized F2 to raise F3
He noted that 1/3 of F2 round produced only round, while 2/3 of F2
round produced both round and wrinkled in 3:1, but F2 wrinkled
produced only wrinkled.
Phenotypic Ratio:
Round Seed : Wrinkled Seed
3 : 1

Genotypic Ratio:

Homozygous Round (RR) : Heterozygous Round (Rr) : Homozygous Wrinkle (rr)

1 : 2 : 1

Test Cross
Mendel devised a cross called Test Cross, which is used to test
the phenotype of an individual showing a dominant
phenotype.
In test cross an individual showing a dominant phenotype is
crossed with an individual showing its recessive phenotype.
This cross finds out the homozygous or heterozygous nature
of the genotype.
Case I Case II
If the seed is homozygous round (RR). If will
grow into a pea plant that will form all gametes
with only R. Wrinkle seed plant is always
homozygous recessive. It will produce all form
all gametes with r. Fertilization will result in
100% round seed plants.
If the seed is heterozygous round (Rr), it will
grow into a plant that forms half the gametes
with R and half with r allele. Wrinkle seed
plant will form only r type of gametes.
Fertilization will result into 50% round and
50% wrinkled seed plants.

Result:

All Round seed progeny
The tested phenotypically dominant individual
is homozygous.


Result:


(half) Round seed and
(Half) Wrinkled seed plants
The tested phenotypically dominant individuals
is heterozygous.
Mendels Law of Independent Assortment
(Dihybrid Cross)
When two contrasting pairs of traits are followed in the
same cross, their alleles assort independently into
gametes.

Explanation:
Mendel decided to study the inheritance of two traits
simultaneously, e.g., seed shape and seed color.
Seed shape could be round or wrinkle. Similarly seed color
could be yellow or green.
He crossed true breeding round and yellow seed with true
breeding wrinkled and green seed plan.
All the F1 di-hybrid were round yellow seed to dominance


F2 progeny were not only in the two parental combination
but also new phenotypic combinations, i.e., round green
and wrinkled yellow.
A clear cut 9 : 3 : 3 : 1 phenotypic ration was found in F2.
Appearance of these new recombinant phenotypes of F2
indicated that some sorts of shuffling of alleles occurred
during gamete formation.
Mendel called this mechanism of shuffling as Independent
Assortment of Alleles into gametes.

21
Round/Yellow: 9
Round/green: 3
wrinkled/Yellow: 3
wrinkled/green:
1
9:3:3:1
copyright cmassengale
Dominance Relations
1. Complete dominance:
When one allele (R) is completely dominant over the other allele (r),
presence of recessive allele functionally hidden, so the
heterozygous (Rr) has the same round phenotype as (RR), is
called complete dominance.
The dominant allele is denoted as capital letter and the recessive is
denoted as small letter.
2. Incomplete dominance:
When the phenotype of the heterozygote is intermediate between
phenotype of the two heterozygotes, is called incomplete
dominance.
Both the Alleles are represented by the same letter (R), but are
numbered differently.
Example: When true breeding red (R1R1) flowered plant is crossed
with a true breeding white R2R2) flowered plants 4 Oclock.

All the F2 hybrids has with pink flowers. This new phenotype is
a shade intermediate between those the parents due to
intermediate amount of pigment in petals.
3. Co-dominance:
When two alleles affect the phenotype in separate and
distinguishable ways. Neither allele can mask the other and
both are expressed in the offspring and not in an
intermediate form, is called co-dominance.
Example: MN Blood type of Blood Group System:
MN blood type is based on the specific antigens on RBC. The
antigens induce production of their specific antibodies. There
are three phenotypes; M, N and MN.
Phenotype Genotype antigens or RBC
M L
M
L
M
M
N L
N
L
N
N
MN L
M
L
N
M and N
4. Over-Dominance:
In this dominance relation, the dominant heterozygote
exceeds in quantity the phenotypic expression of both the
homozygous.
Example:
In Fruit fly Drosophila the heterozygous (W
+
/W) has more
quantity of pigments in eye then wild (W
+
/W
+
) or white eye
(W/W) homozygotes.
Multiple Alleles
The alternative forms of gene whose number is more than two, are
called Multiple Alleles. Two of these multiple alleles can be
present in the genome of a diploid organism.
Example:
Blood Group System in Human
(ABO Blood Group system)
Discovery: First discovered by Karl Landsteiner in 1901.
Phenotypes: ABO blood has four different phenotypes on the basis of
specific antigens on RBCs.
Antigen Antibodies Blood Group
A Anti B antibody A
B Anti A antibody B
A and B No any antibody AB
No antigen A or B Bothe A and B antibodies O

Genetic Basis of ABO blood group:
Bernstein explained the genetic basis of ABO system in
1925.
ABO blood system is encoded by a single polymorphic gene I
on chromosome 9.
It has three multiple alleles I
A
, I
B
and i
Allele I
A
specify the production of Antigen A.
Alleles I
B
specify the production of antigen B
Allele i does not specify any antigen
Allele I
A
, I
B
are co-dominant to each other
Allele i is recessive to both I
A
, I
B

Allele I
A
I
A
or

I
A
i ,

genotype will produce phenotype A
Allele I
B
I
B
or I
B
i produce phenotype B
The homozygous ii will produce phenotype O

Phenotype Genotype
Antigen
present
Antibody
produced
Blood
Group
A I
A
I
A
A Anti-B A
A I
A
i A Anti-B A
B I
B
I
B
B Anti-A B
B I
B
i B Anti-A B
AB I
A
I
B
A & B None AB
O ii None
Anti-A &
Anti-B
O
Human Blood Groups
Blood Transfusion:
The Blood samples of the donor and the recipient are cross
matched for compatibility before giving transfusion
Blood group A can be transfused only into A and AB
because they do not anti-A antibodies
Blood group B can be transfused only B and AB as they
have not anti-B antibodies.
AB can be transfused only AB
O Blood group can be used as donor for small transfusion to
A, B and AB recipients.
Universal donors: O blood groups are called universal donors
Universal recipients: AB blood group are called universal
recipients
Rh Blood Group System
The ABO blood group is further differentiated by a
+
or

The positive or negative sign refers to the presence or absence
of another antigens called Rh factor on RBCs. This system
is named Rh after Rhesus monkey.
Genetic Basis of Rh Blood Group System:
It is encoded by three genes C, D and E, which occupy two
tightly linked loci.
Alleles of gene D occupy one locus D.
C and E alternatively occupy other locus
The D locus is of prime importance
D has two alleles, D and d
D is completely dominant over d

Person having DD or Dd have Rh factor on RBCs and are
Rh
+

Persons with genotypes dd do not have Rh factor and are
called Rh
-
Blood Transfusion Compatibility:
Unlike the naturally occurring anti-A and anti-B antibodies
of ABO system, anti-Rh antibody production requires a
stimulus by the human Rh antigen itself.
An Rh
-
person does not produce anti-Rh antibodies unless
he is exposed to Rh antigen.
Rh
+
antigen donor is totally incompatible for Rh
-
recipient.


Erythroblastosis Foetalis (Maternal foetal Rh incompatibility):
When an Rh- woman married to an Rh+ man conceives a child who
is Rh
+
. If the RBCs of the Rh+ foetus cross the placental barrier and
enter into Rh
-
mothers blood stream.
The mothers immune system react to the foetal Rh antigen stimulus
by producing large number of anti-Rh antibodies.
When mothers anti-Rh antibodies seep through placenta into blood
circulation of foetus, they start hemolysis (breakdown) of RBCs of
foetus.
This destruction continues, foetus becomes anemic.
This anemia may lead to abortion or still birth.
If the pregnancy continues, the liver and spleen of foetus swell.
The breakdown products of RBC called Bilirubin also accumulates
in the foetus.
Bilirubin damages his brain cells and turn his skin and whites of the
white yellow.
This condition is jaundice
Epistasis
When an effect caused by a gene or gene pair at one locus interfere
with or hides the effect caused by another gene or gene pair at
another locus, such a phenomenon of gene interaction is called
Epistasis.
Example (Bombay Phenotype):
The ABO blood type antigens by I
A
or I
B
gene depends upon the
presence of another gene H. I gene is found on chromosome 9 while
H gene on chromosome 19.
H gene produces an enzyme that inserts a sugar onto a precursor
glycoprotein on the surface of RBC. Only then antigen A and
antigen B could attach to this sugar of substance.
The recessive allele h can not insert sugar molecule to glycoprotein.
Thus A and B antigens can not attach to RBC and fall away. RBC
lack A and B antigens, although they do not lack I
A
and I
B
genes.
They are phenotypically like O, but not genotypically O. This
phenotype is called Bombay Phenotype.
Pleiotropy
When a single gene affect two or more traits, the phenomena
is called Pleiotropy.

Example:
1. White eye gene in Drosophila also affect the shape in
sperm storing organs.
2. Gene for growth rate in human also affect both weight and
height.

Continuously Varying Traits
Phenotypic expression of trait has two aspects.
1. Qualitative Expression: Qualitative differences are large,
obvious and show discontinuous variations with sharply
distinct phenotypes.
Examples:
a. Pea seed shape (Round or wrinkled).
b. 4 Oclock flower can have three phenotypes i.e., red, pink
and white
c. ABO blood group system in human have 4 phenotypes i.e.,
A, B, AB and O
d. Tongue rolling in human
e. Ear lobes in human


2. Quantitative Expression: Quantitative differences are
small, less obvious and variations are small and less
striking.
Examples:
a. Height in human
b. Weigh in human
c. Intelligence in human
d. Skin color in human
e. Grain color in wheat

Polygenic Traits
When a continuously varying trait is encoded by alleles of
two or more different gene pairs found at different loci, all
influencing the same trait in an additive way. These
quantitative traits are called Polygenic traits, and their gene
are called Polygenes.
Each polygene has a small positive or negative effect on the
character.
Examples:
1. Wheat grain color:
Wheat grain color vary from white to dark red. These trait
shows a continuous spectrum of color variation. Some are
white, some are deep red but most grain have shades in
between form light pink to moderately dark red.
Figure 14.13
Eggs
Sperm
Phenotypes:
Number of
dark-skin alleles:
0 1 2 3 4 5 6
1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
8

1
/
64

6
/
64

15
/
64

20
/
64

15
/
64

6
/
64

1
/
64

AaBbCc AaBbCc
F2 grains have exactly seven shades of color in the ratio of 1
dark red : 6 moderately dark red : 15 red : 20 light red : 15
pink : 6 light pink : 1 white.

2. Human skin color: It is also a quantitative trait which is
controlled by three to six gene pairs.

3. Human height is also a complex polygenic trait.
The continuous variation in range of human height produce
smooth bell-shaped curve. A few people are very tall or
very short, but most individuals fall in the average or mean
value. This trait is controlled by multiples genes, even the
multiple alleles of each gene is possible.
Continuous Variation
Dominant Traits Recessive Traits
Freckles No freckles
Widows peak Straight hairline
Free earlobe Attached earlobe
Discontinuous variations in human
Gene Linkage
The phenomenon of staying together of all the genes of a
chromosomes is called linkage.
Gene linkage is a physical relationship between genes.
A chromosomes carries its linked in the form of linkage
groups.
Man has 23 linkage groups. Gene for color blindness,
hemophilia, gout etc form one linkage group on human X-
chromosome.
Similarly, gene for sickle cell anemia, leukemia, and albinism
make together linkage group on human chromosome 11.
Linked genes whose are close to each other do not obey
Mendels law of independent assortment.
Crossing Over
Crossing over is the exchange of genetic segments (Genes)
between non-sister chromatics of homologous chromosomes
during meiosis.
Process of Crossing Over:
The homologous chromosomes pair up lengthwise, point to
point and locus to locus.
One homologous carries gene A and B, but other
homologue has a with b. Crossing over occurs at 4 strand
stage between non sister chromatids.
Allele b crosses over to homologous containing allele A
and allele B comes on the homologue of a.
The homologous chromosomes separate by opening up
chiasmata.
The sister chromatids also separate from each other and
each become an independent chromosome in each of the
four haploid gametes.
Four types of gametes are formed
Two with parental combinations of linked genes, AB and ab
Two with recombination of genes, i.e., Ab and aB.
Crossing Over or Recombinant Frequency:

It is the combination of recombinant types to two gene pairs as
compared to the sum of all combinations.

Recombinant frequency = Recombinant types/sum of all
combinations x 100

The recombinant frequencies between two linked genes can be
calculated by backcrossing the heterozygote to a
homozygous double recessive.

Sex Determination
Sex Chromosomes: The chromosome or pair or chromosomes which
have the gene for determination of sex called sex chromosomes.
Autosomes: All chromosomes other than sex chromosomes are called
autosomes. Autosomes do not carry sex determining genes.

Examples:
a. In Drosophila (Fruit fly): Drosophila contain 8 chromosomes in the
form of 4 pairs. First three pairs are autosomes while the last 4
th
pair is
called sex chromosome. Female has two rod shaped X chromosome
while male has one rod shaped X-chromosome but the other a
morphologically different , J-shaped Y-chromosome.
b. In Human: In human there are 46 chromosomes in the form of 23
pairs. First 22 are autosomes while the last 23
rd
pair is sex
chromosome. She is XX wile he is XY. SRY is the male determining
gene. It is located at the tip of short arm of Y-chromosome. Its name
SRY stands for Sex determining regions of Y
Patterns of Sex Determination
There are variety of sex determining mechanisms.
1. X0 XX type: This type is found in grasshopper and
protenor bug. Male is X0 because it has only one X
chromosome. The other is entirely missing. Males is
heterogametic because it form two types of sperms. Half
with X chromosomes while the other half are without X
chromosome. A gamete without any sex chromosome is
called Nullo gamete.
Female is XX, it is homogametic as it forms only one type
of eggs.
2. XY XY type:
This type of sex determination is found in Drosophila, man
and other animals. Male is XY and female is XX. Males is
heterogametic producing two types of sperms. Half of the
sperm with X-chromosomes and half with Y-chromosomes.
Chances of both types of sperms are equals. Female is
homogametic producing one type of egg. Sex of the
offspring is determined by the type of sperm. The sex ratio
between male and female offspring is 1 : 1.
3. ZZ ZW type:
This type of sex determination is common in birds, butterflies
and months.
It is the reverse of XY - XX type. Here the female is
heterogametic producing two types of eggs. Male is
homogametic ZZ. All sperms are alike each carrying a Z
chromosomes. It is the kind of egg that determines the sex
of offspring. Sex ratio is 1 : 1.
Comparison of chromosomal determination of sex
between Drosophila and Human
Although the Drosophila and human follow the same XY
XX type yet there are some basic differences.
Human Y chromosomes contains SRY but no any such gene
is found in Drosophila.
Absence of Y chromosome simply leads to the female
development path in human.
X0 Turner Syndrome in human produced is a sterile
female, but in Drosophila is sterile male.
XXY individuals in human is a sterile male called
Klinefelters Syndrome, but the same XXY sex of
chromosome is Drosophila produces a fertile female.
Species XX XY X0 XXY
Drosophila


Human


Sex Determination in Plants
Plants show a variety of sexual situations.
Some species are Dioecious having plants of separate sexes.
Male produce flowers with only stamens and female plants
produce flowers with only carpels. Some Dioecious plants
have a XX XY system.
These plants exhibit X chromosome Autosomes balance
system of sex determination. All eggs are one types of one
types. Pollens of the two types are produced in equal
number. One kind of pollen after fertilizing the egg produce
male plant whereas the other kind of pollen after
fertilization produce female plant.
Sex Determination in Yeast (Fungus)
Many species of Eukaryotic microorganisms like yeast do not
have sex chromosomes. These depends on genic system for
determination of sex. In this system the sexes are specified
by simple allelic differences at a small number of gen loci
e.g., a and are the two mating types (sexes) of yeasts,
controlled by MAT a and MAT alleles respectively.
Sex Linkage
Sex Linkage in Drosophila:
Thomas Hunt Morgan:
in 1910 provided experimental evidence in support of
chromosomal theory of heredity through discovery of sex
linkage in fruit fly Drosophila.
Morgan raised cultures of Drosophila flied to study different
traits, such as color of the eye.
The normal fruit flies, the wild type have bright red eyes.
Morgan mated mutated white eyed male with a wild type red
eyed female.
All offspring of this cross had red eyes.
Morgan raised F2 and counted the offspring.

The proportion of red eyed to white eyed flies did not perfectly
fit into Mendelian 3 : 1 ratio.
The number of recessive phenotype individuals was too small.
There was another peculiarity in this result.
All the white eyed flies were only male.
There was no white eye female in F2 generation.
Morgan proposed that, (i) the gene for eye color is located on X
chromosomes. (ii) the alleles for eye color are present only X
chromosome. There is no corresponding allele for this trait on Y
chromosome.
Males are hemizygous as they carry one allele on their X
chromosome.
Females have two X chromosomes, each carrying an allele for
the trait.


Females can be homozygous or heterozygous
Symbol w represents the recessive allele for white eye,
and w+ for red eye.
The genotypes of P1 cross were X
w+
X
w+
for red eye
female, and X
w
Y for the white eye male.
Step 3: Test Cross:
He crossed the P1 white eyed male (XwY) with one of its own
daughters, the red eyed heterozygous female from F1
generation. This test cross produced red eyed female, red
eyed males, and white eyed males. White eyed flies were
less viable.
Pea plants have several advantages for genetics.
Pea plants are available in many varieties with distinct
heritable features (characters) with different variants (traits).
Another advantage of peas is that Mendel had strict control
over which plants mated with which.
Each pea plant has male
(stamens) and female
(carpal) sexual organs.
In nature, pea plants typically
self-fertilize, fertilizing ova
with their own sperm.
However, Mendel could also
move pollen from one plant
to another to cross-pollinate
plants.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.1
In a typical breeding experiment, Mendel would
cross-pollinate (hybridize) two contrasting,
true-breeding pea varieties.
The true-breeding parents are the P generation and
their hybrid offspring are the F
1
generation.
Mendel would then allow the F
1
hybrids to self-
pollinate to produce an F
2
generation.
It was mainly Mendels quantitative analysis of
F
2
plants that revealed the two fundamental
principles of heredity: the law of segregation
and the law of independent assortment.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Laws of Inheretance
Law of Segregation: When gametes
(sperm, egg, etc) are formed each gamete
will receive one allele or the other.
Law of Independent Assortment: Two or
more alleles will separate independently of
each other when gametes are formed
If the blending model were correct, the F
1
hybrids
from a cross between purple-flowered and white-
flowered pea plants would have pale purple
flowers.
Instead, the F
1
hybrids
all have purple flowers,
just a purple as the
purple-flowered
parents.
By the Law of Segregation, the two
alleles for a characters are packaged
into separate gametes
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.2
Punnett Squares
Genetic problems can be easily solved using a
tool called a Punnett square.
Tool for calculating genetic probabilities
A Punnett square
Monohybrid cross
(cross with only 1 trait)
Problem:
Using this is a several step process, look at the
following example
Tallness (T) is dominant over shortness (t) in pea plants.
A Homozygous tall plant (TT) is crossed with a short
plant (tt). What is the genotypic makeup of the
offspring? The phenotypic makeup ?
Punnet process
1. Determine alleles of
each parent, these are
given as TT, and tt
respectively.
2. Take each possible
allele of each parent,
separate them, and place
each allele either along
the top, or along the side
of the punnett square.
Punnett process continued
Lastly, write the letter for
each allele across each
column or down each
row.
The resultant mix is the
genotype for the
offspring.
In this case, each
offspring has a Tt
(heterozygous tall)
genotype, and simply a
"Tall" phenotype.
Punnett process continued
Lets take this a step further
and cross these F1
offspring (Tt) to see what
genotypes and phenotypes
we get.
Since each parent can
contribute a T and a t to
the offspring, the punnett
square should look like
this
Punnett process continued
Here we have some more
interesting results: First
we now have 3 genotypes
(TT, Tt, & tt) in a 1:2:1
genotypic ratio. We now
have 2 different
phenotypes (Tall & short)
in a 3:1 Phenotypic ratio.
This is the common
outcome from such
crosses.
When Mendel allowed the F
1
plants to self-
fertilize, the F
2
generation included both purple-
flowered and white-flowered plants.
The white trait, absent in the F
1
, reappeared in the
F
2
.
Based on a large
sample size, Mendel
recorded 705
purple-flowered F
2

plants and 224
white-flowered F
2

plants from the
original cross.
Copyright 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.2
Law of Segregation - the two alleles for each
character segregate during gamete production

Law of Independent Assortment Each
set of alleles segregates independently

Test cross designed to reveal the
genotype of an organism

Mendelian Inheritance and Rules
of Probability
Rule of Multiplication the probability
that two events will occur simultaneously is
the product of their individual probabilities
Probability that an egg from the F1 (Pp)
will receive p =
Probability that an sperm from the F1 (Pp)
will receive p =
Probability that a of offspring receiving
two recessive alleles during fertilization
x =



Rule Applies to dihybrid Crosses
For a dihybrid cross, YyRr x YyRr, what is
the probability of an F2 having the genotype
YYRR?
Go page 267 and work #9 and #10
Dihybrid Crosses
Dihybrid crosses are made when phenotypes and
genotypes composed of 2 independent alleles are
analyzed.
Process is very similar to monohybrid crosses.
Example:
2 traits are being analyzed
Plant height (Tt) with tall being dominant to short,
Flower color (Ww) with Purple flowers being dominant
to white.
Dihybrid Cross Example
The cross with a pure-breeding (homozygous)
Tall,Purple plant with a pure-breeding Short, white
plant should look like this.
F1 generation
Dihybrid Cross Example continued
Take the offspring and cross them since they are donating
alleles for 2 traits, each parent in the f1 generation can give 4
possible combination of alleles. TW, Tw, tW, or tw. The cross
should look like this. (The mathematical foil method can
often be used here)
F2 Generation
Dihybrid Cross Example continued
Note that there is a 9:3:3:1
phenotypic ratio. 9/16
showing both dominant traits,
3/16 & 3/16 showing one of
the recessive traits, and 1/16
showing both recessive traits.
Also note that this also
indicates that these alleles are
separating independently of
each other. This is evidence
of Mendel's Law of
independent assortment
Other Factors: Incomplete Dominance
Some alleles for a
gene are not
completely
dominant over the
others. This
results in partially
masked
phenotypes which
are intermediate
to the two
extremes.
Incomplete Dominance
Codominance
Two alleles affect the phenotype in separate
and distinguishable ways.
Neither allele can mask the other and both
are expressed in the offspring and not in an
intermediate form.
Example: red flowers that are crossed with
white flowers that yield red and white
flowers.

1) In cattle, roan coat color (mixed red and white
hairs) occurs in the heterozygous (Rr) offspring of
red (RR) and white (rr) homozygotes. When two
roan cattle are crossed, the phenotypes of the
progeny are found to be in the ratio of 1 red:2
roan:1 white. Which of the following crosses
could produce the highest percentage of roan
cattle?
A) roan x roan
B) red x white
C) white x roan
D) red x roan
E) All of the above crosses would give the same
percentage of roan.
Multiple Alleles
Page 267 and work #6
Pleiotropy
Most genes have
multiple
phenotypic effects.
The ability of a
gene to affect an
organism in many
ways is called
pleiotropy.
Epistasis
Epistasis occurs
when a gene at one
locus alters or
influences the
expression of a gene
at a second loci. In
this example, C is for
color and the
dominate allele must
be present for
pigment (color) to be
expressed.
Polygenetic Inheritance
Qualitative variation
usually indicates
polygenic inheritance.
This occurs when there
is an additive effect
from two or more
genes. Pigmentation in
humans is controlled by
at least three (3)
separately inherited
genes.
Other Factors: Continuous Variation
Many traits may
have a wide
range of
continuous
values. Eg.
Human height
can vary
considerably.
There are not just
"tall" or "short"
humans
Chromosomes and Classical Genetics
Walter Sutton in 1902 proposed that chromosomes
were the physical carriers of Mendel's alleles
Problems arose however regarding the following
question:
Why are the number of alleles which undergo
independent assortment greater than the number of
chromosomes of an organism?
This was explained understanding of 2 additional
factors; Sex Linkage and crossing over
Sex Linkage
All chromosomes are homologous except on sex
chromosomes.
Sex chromosomes are either X or Y.
If an organism is XX, it is a female, if XY it is
male.
If a recessive allele exists on the X chromosome.
It will not have a corresponding allele on the Y
chromosome, and will therefore always be
expressed
Sex Linkage Example
Recessive gene for white eye
color located on the X
w

chromosome of Drosophila.
All Males which receive this gene
during fertilization (50%) will
express this.
If a female receives the X
w

chromosome. It will usually not
be expressed since she carries an
X chromosome with the normal
gene
Human Sex Linkage
Hemophilia:
Disorder of the blood where
clotting does not occur
properly due to a faulty
protein.
Occurs on the X
chromosome, and is
recessive.
Thus a vast majority of
those affected are males.
First known person known
to carry the disorder was
Queen Victoria of England.
Thus all those affected are
related to European royalty.
Hemophilia and Royalty
Other Factors: Multiple Alleles
Phenotypes are controlled by more than 1 allele. Eg. Blood types are
regulated by 3 separate genes.

ABO Blood typing
Humans have multiple types of surface antigens on RBC's
The nature of these surface proteins determines a person's Blood Type.
There are 3 alleles which determine blood type I
A
, I
B
, or I
O
. This is
referred to as having multiple alleles
Human blood types are designated as A, B or O.
Type A denotes having the A surface antigen, and is denoted by I
A
Type B denotes having the B surface antigen, and is denoted by I
B
Type O denotes having neither A or B surface antigen, and is denoted by
I
O
There are several blood type combinations possible
A
B
AB (Universal recipient)
O (Universal donor)
Blood & Immunity
A person can receive blood only when the donor's blood type does not
contain any surface antigen the recipient does not. This is because the
recipient has antibodies which will attack any foreign surface protein.
Thus, Type AB can accept any blood types because it will not attack
A or B surface antigens. However, a type AB person could only
donate blood to another AB person. They are known as Universal
Recipients.
Also, Type O persons are Universal donors because they have NO
surface antigens that recipients' immune systems can attack. Type O
persons can ONLY receive blood from other type O persons.
There is another blood type factor known as Rh.
People are either Rh+ or Rh- based on a basic dominant/recessive
mechanism.
Not usually a problem except with pregnancy.
It is possible that an Rh- mother can carry an Rh+ fetus and develop
antibodies which will attack & destroy the fetal blood
This usually occurs with 2nd or 3rd pregnancies, and is detectable and
treatable.

Other Factors
Gene interaction:
Many biological pathways are governed by multiple
enzymes, involving multiple steps. If any one of these
steps are altered. The end product of the pathway may
be disrupted.

Environmental effects:
Sometimes genes will not be fully expressed owing to
external factors. Example: Human height may not be
fully expressed if individuals experience poor nutrition.
Environmental Impact on Phenotype
pH of the soil will change the color of
hydrangea flowers from blue to pink
The
Average
American
Phenotype
Technology
And
Genetic testing
Carrier
Recognition
Newborn
screening
Fetal testing
1. Amniocentesis
2. Chorionic villus
sampling (CVS)
3. Ultrasound
4. Fetoscopy

Mendelian Genetics
End