Introduction to Genetics

GENETICS branch of biology that deals with heredity

and variation of organisms.
Chromosomes carry the hereditary information (genes)
Arrangement of nucleotides in DNA
DNA RNA Proteins

What is a gene?
A gene is a stretch of DNA whose sequence determines
the structure and function of a specific functional
molecule (usually a protein)
DNA

GAATTCTAATCTCCCTCTCA
ACCCTACAGTCACCCATTTG
GTATATTAAAGATGTGTTGT
CTACTGTCTAGTATCC

Computer program

mRNA

Working copy

Protein

Specific function

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Genes are located in the cell nucleus on chromosomes

Karyotype

Mendels laws

Concept 14.1: Mendel used the scientific approach to

identify two laws of inheritance
Mendel discovered the basic principles of heredity by
breeding garden peas in carefully planned experiments

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Figure 14.1

TECHNIQUE

Figure 14.2

2
Parental
generation
(P)
3

Stamens
Carpel
4

RESULTS
First filial
generation
offspring
(F1)

Figure 14.2a

TECHNIQUE
1

2
Parental
generation
(P)
Stamens
3

Carpel
4

Figure 14.2b

RESULTS
First filial
generation
offspring
(F1)

 Mendel chose to track only those characters that

occurred in two distinct alternative forms
He also used varieties that were true-breeding (plants
that produce offspring of the same variety when they
self-pollinate)

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Mendel deduced the underlying principles of genetics from

these patterns
1. Segregation
2. Dominance
3. Independent assortment

Mendel looked at seven traits or characteristics of

pea plants

Work was largely ignored for

34 years, until 1900, when
3 independent botanists
rediscovered Mendels work
Mendel was the first biologist to use Mathematics to explain his results
quantitatively
MENDEL PREDICTED

The concept of genes

That genes occur in pairs

That one gene of each pair is present in the gametes

Gene a unit of heredity; a section of DNA sequence encoding a
single protein
Genome the entire set of genes in an organism
Alleles two genes that occupy the same position on homologous
chromosomes and that cover the same trait (like flavors of a trait).
Locus a fixed location on a strand of DNA where a gene or one of
its alleles is located.

 In a typical experiment, Mendel mated two contrasting,

true-breeding varieties, a process called hybridization
The true-breeding parents are the P generation
The hybrid offspring of the P generation are called the F1
generation
When F1 individuals self-pollinate, the F2 generation is
produced
What Mendel called a heritable factor is what we now call a gene

Homozygous having identical genes (one from each parent) for a particular
characteristic.
Heterozygous having two different genes for a particular characteristic.

Dominant the allele of a gene that masks or suppresses the expression of an

alternate allele;
the trait appears in the heterozygous condition.
Recessive an allele that is masked by a dominant allele; does not appear in the
heterozygous condition, only in homozygous
Genotype the genetic makeup of an organisms
Phenotype the physical appearance of an organism (Genotype + environment)

Allele for purple flowers

Locus for flower-color gene

Allele for white flowers

Homologous
pair of
chromosomes

Monohybrid cross
Monohybrid cross: a genetic cross involving a single pair of genes (one trait); parents
differ by a single trait.
P = Parental generation
F1 = First filial generation; offspring from a genetic cross
F2 = Second filial generation of a genetic cross

Crossing two pea plants that differ in stem size, one tall
one short
T = allele for Tall
t = allele for dwarf
TT = homozygous tall plant
t t = homozygous dwarf plant
TT tt

Monohybrid cross for stem length:

P = parentals
true breeding,
homozygous plants:

F1 generation
is heterozygous:

TT tt
(tall)

(dwarf)

Tt
(all tall plants)

Monohybrid cross: F2 generation

If you let the F1 generation self-fertilize, the next
monohybrid cross would be:
Genotypes:
Tt Tt
1 TT= Tall
(tall)

TT

Tt

Tt

tt

(tall)

2 Tt = Tall
1 tt = dwarf
Genotypic ratio= 1:2:1
Phenotype:
3 Tall
1 dwarf
Phenotypic ratio= 3:1
Genotypes:
100% T t
Phenotypes:
100% Tall plants

Test Cross
When you have an individual with an unknown genotype, you do a test cross.
Test cross: Cross with a homozygous recessive individual.

A heterozygous with a homozygous

You can
still use the
shortcut!

t
t

T
t

Tt
t t

Genotypes:
50% T t
50 % t t

Phenotypes:
50% Tall plants
50% Dwarf plants

Test cross
If you get all 100% purple flowers, then the unknown
parent was PP

If you get 50% white,

50% purple flowers,
then the unknown
parent was Pp

Pp

Pp

Pp

Pp

Pp

pp

Pp

pp

How can we tell the genotype of an individual

with the dominant phenotype?
Such an individual could be either homozygous
dominant or heterozygous
The answer is to carry out a testcross:
breeding the mystery individual with a
homozygous recessive individual
If any offspring display the recessive phenotype,
the mystery parent must be heterozygous

Mendels Principles
1. Law of Dominance:
When two contrasting characters are present in a single individual
(hybrid) only one character is considered as dominant (i.e.
expressed) and the other is considered as recessive (i.e.
unexpressed). In Mendels experiment the tall plants which were
obtained in F1 generation are the dominant ones and the dwarf
ones are recessive
2. Law of Segregation:
Whenever a pair of factors for a character is brought together in a
hybrid , they segregate or separate during the formation of
gametes
(Law of purity of gametes)

 The concept, now known as the LAW OF

SEGREGATION, states

that the two alleles for a heritable character separate

(segregate) during gamete formation and end up in
different gametes

Thus, an egg or a sperm gets only one of the two alleles

that are present in the somatic cells of an organism
This segregation of alleles corresponds to the distribution
of homologous chromosomes to different gametes in
meiosis

SOLVING COMPLEX GENETICS PROBLEMS WITH

THE RULES OF PROBABILITY

We can apply the multiplication and addition rules to predict the

outcome of crosses involving multiple characters
A dihybrid or other multi character cross is equivalent to two or
more independent monohybrid crosses occurring
simultaneously
In calculating the chances for various genotypes, each
character is considered separately, and then the individual
probabilities are multiplied

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 The addition rule states that the probability that any one
of two or more exclusive events will occur is calculated
by adding together their individual probabilities

The rule of addition can be used to figure out the

probability that an F2 plant from a monohybrid cross will
be heterozygous rather than homozygous

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Rr
Segregation of
alleles into eggs

Figure 14.9

Rr
Segregation of
alleles into sperm

Sperm
R

/2

R
1

/2

R
/4

Eggs

/2

/4

r
1

/2

r
/4

r
/4

Figure 14.UN01

ProbabilityofYYRR

ProbabilityofYyRR

/4(probabilityofYY)

/4(RR)

/2(Yy)

1/4(RR)

/16
/8

Figure 14.UN02

/4(probabilityofpp)1/2(yy)1/2(Rr)

1/16

/41/21/2

1/16

/21/21/2

2/16

PPyyrr

/41/21/2

1/16

ppyyrr

/41/21/2

1/16

ppyyRr

ppYyrr

Ppyyrr

Chanceofatleasttworecessivetraits

6/16or3/8

The Spectrum of Dominance

Complete dominance occurs when phenotypes of the
heterozygote and dominant homozygote are identical

In codominance, two dominant alleles affect the phenotype in

separate, distinguishable ways

In incomplete dominance, the phenotype of F1 hybrids is

somewhere between the phenotypes of the two parental varieties

Incomplete dominance

A process where the dominant gene is incompletely

dominant over the recessive gene and produces a
phenotype which is intermediate to the parental type
Carl Correns (1864-1933)- German Botanist
Mirabilis jalapa (4O clock plant), Antirrrhinum sp.
When F1 generation (all pink flowers) is self
pollinated, the F2 generation is 1:2:1
Incomplete
red, pink, white

R R

Rr

Rr

rr

Dominance

Non-Mendelian inheritance: additive traits

Snapdragon red colour is additive

Gene expresses itself by producing a particulate

protein or enzyme
Enzyme acts on a particular substrate and brings out a
expression of a particular trait
The original allele produces normal; enzyme while the modified
allele may produce normal or less efficient enzyme or may not
produce any enzyme
If the changed allele produces anon functional enzyme or no
enzyme then it will not be able to produce the phenotypic
expression. During which, the phenotypic expression depends
solely on the functioning of unmodified allele. Hence the
unmodified allele responsible for the expression of original
phenotype is called dominant allele while the modified allele
which does not contribute in the expression of the phenotype is
called recessive allele.

 Genetics beyond Mendel other patterns of inheritance

Co-dominance
Incomplete dominance

 Co-dominance both alleles

expressed equally
Example ABO blood types
(ABO blood type is also an example
of multiple alleles)

IA A antigen on blood cells

IB B antigen on blood cells
Io no antigen on blood cells
Antigen in this case is a type of sugar
molecule reacting to which the immune
system may respond

Multiple Alleles
Most genes exist in populations in more than two allelic
forms
For example, the four phenotypes of the ABO blood
group in humans are determined by three alleles for the
enzyme (I) that attaches A or B carbohydrates to red blood
cells: IA, IB, and i.
The enzyme encoded by the IA allele adds the A
carbohydrate, whereas the enzyme encoded by the IB
allele adds the B carbohydrate; the enzyme encoded by
the i allele adds neither

Multiple Alleles

More than 2 alleles affect the phenotype equally &

separately
not blended phenotype
human ABO blood groups
3 alleles
IA, IB, i
IA & IB alleles are co-dominant
i allele recessive to both

Example of multiple alleles: Human

Blood Type
Alleles:
IA=A allele
IB=B allele
i=O allele

Blood group

Symbol

Genoypes

IA I A
IA i

Homozygous
Heterozygous

IB I B
IB i

Homozygous
Heterozygous

AB

IA I B

Codominant

ii

Homozygous
Recessive

Table 5.1

Multiple alleles in rabbits

Pleiotropy
Most genes are pleiotropic
one gene affects more than one phenotypic character

Most genes have multiple phenotypic effects. The ability of a gene to affect an
organism in many ways is called pleiotropy.
1 gene affects more than 1 trait (character)
dwarfism (achondroplasia)
gigantism (acromegaly)
For example, pleiotropic alleles are responsible for the
multiple symptoms of certain hereditary diseases,
such as cystic fibrosis and sickle-cell disease

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.

Epistasis
In epistasis, a gene at one locus alters the phenotypic
expression of a gene at a second locus
For example, in mice and many other mammals, coat color
depends on two genes
One gene determines the pigment color (with alleles B
for black and b for brown)
The other gene (with alleles C for pigment color and c for
no pigment color ) determines whether the pigment will
be deposited in the hair

 Epistatis does not allow the gene to express itself fully

Dominance works at interallelic but intragenic level

Epistasis works at intergenic level

Epistasis refers to all non-allelic interactions including

complementary and duplicate interactions

BbCc

BbCc

Sperm
1

BC

bC

Bc

bc

BC

BBCC

BbCC

BBCc

BbCc

bC

BbCC

bbCC

BbCc

bbCc

Bc

BBCc

BbCc

BBcc

Bbcc

bc

BbCc

bbCc

Bbcc

bbcc

16

16

16

Epistasis in Labrador retrievers

 Dihybrid crosses are those where we

consider the inheritance of two
characteristics at the same time.
Strictly speaking, this law applies only to genes on
different, nonhomologous chromosomes or those
far apart on the same chromosome

Genes located near each other on the same

chromosome tend to be inherited together

Mendel had observed that the seeds of his

pea plants varied in several ways among
them, whether the peas were round or
wrinkled and whether they were green or
yellow.
He did monohybrid crosses on both
characteristics, but then decided to look at
how they were inherited together.

 There are four possible combinations of the two

characteristics. Peas can be:
1) round and yellow
2) round and green
3) wrinkled and yellow
4) wrinkled and green

 From his monohybrid trials, Mendel had discovered that

the allele for yellow colour was dominant to that for
green.
He had also found that the allele for round peas was
dominant to the allele for wrinkled peas.
Starting with individuals that were homozygous, either
for both dominant characteristics or both recessive
characteristics, he set off breeding again

Phenotype

Round, yellow

Genotype

RRYY

Gametes

all

F1

rryy

RY
all

Wrinkled, green

all

ry

RrYy

All of the F1 generation would be heterozygous for both

characteristics, meaning that they would all be round and
yellow. As with monohybrid crosses, he then crossed two
of the F1 generation together

Phenotype

Round, yellow

Genotype

RrYy

Gametes

RY, Ry, rY, ry

F2

Round, yellow

RrYy
RY, Ry, rY, ry

We really need a punnet square for this

RY

Ry

rY

ry

RY

RRYY

RRYy

RrYY

RrYy

Ry

RRYy

RRyy

RrYy

Rryy

rY

RrYY

RrYy

rrYY

rrYy

ry

RrYy

Rryy

rrYy

rryy

F2
9 : 3 : 3 : 1
Round

Round Wrinkled Wrinkled

Yellow

Green Yellow

Green

This is the typical ratio

expected in a dihybrid cross.

Principle of Independent Assortment

Based on these results, Mendel postulated the
3. Principle of Independent Assortment:
Members of one gene pair segregate independently
from other gene pairs during gamete formation
Genes get shuffled these many combinations are one of the
advantages of sexual reproduction

Concept 14.4: Many human traits follow Mendelian

patterns of inheritance
Humans are not good subjects for genetic research
Generation time is too long
Parents produce relatively few offspring
Breeding experiments are unacceptable

However, basic Mendelian genetics endures as the

foundation of human genetics

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Pedigree Analysis
A pedigree is a family tree that describes the
interrelationships of parents and children across
generations
Inheritance patterns of particular traits can be traced
and described using pedigrees

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Figure 14.15

Key
Male

1st
generation

Affected
male

Female

Affected
female

Mating

1st
generation
Ww

ww

Ww

ww

2nd
generation
Ww

ww

3rd
generation
WW
or
Ww
Widows
peak

ff

ff

(a) Is a widows peak a dominant or

recessive trait?

Ff

Ff

Ff

ff

ff

FF
or
Ff

3rd
generation

ww

No widows
peak

ff

Ff

2nd
generation
FFor Ff

Ww ww ww Ww

Ff

Offspring

Attached
earlobe

Free
earlobe

b) Is an attached earlobe a dominant

or recessive trait?

Figure 14.15a

Widows
peak

Figure 14.15b

No widows
peak

Figure 14.15c

Attached
earlobe

Figure 14.15d

Free
earlobe

 Pedigrees can also be used to make predictions

about future offspring
We can use the multiplication and addition rules to
predict the probability of specific phenotypes

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Recessively Inherited Disorders

Many genetic disorders are inherited in a recessive
manner
These range from relatively mild to life-threatening

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The Behavior of Recessive Alleles

Recessively inherited disorders show up only in
individuals homozygous for the allele
Carriers are heterozygous individuals who carry the
recessive allele but are phenotypically normal; most
individuals with recessive disorders are born to carrier
parents
Albinism is a recessive condition characterized by a
lack of pigmentation in skin and hair

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Figure 14.16

Parents
Normal
Aa

Normal
Aa

Sperm
A

AA
Normal

Aa
Normal
(carrier)

Aa
Normal
(carrier)

aa
Albino

Eggs

Figure 14.16a

 If a recessive allele that causes a disease is rare, then

the chance of two carriers meeting and mating is low
Consanguineous matings (i.e., matings between close
relatives) increase the chance of mating between two
carriers of the same rare allele
Most societies and cultures have laws or taboos
against marriages between close relatives

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