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CHAPTER

7
GENETICS
(Part 3)

BIO095 (2013/2014)

CONTENT
DNA Replication

1.
i.

Models of DNA Replication

ii.

DNA Replication Process

2.

Genetic code and its features

3.

Protein synthesis: Transcription and Translation


i.

Translation in prokaryotes and eukaryotes

ii.

Translation Initiation, Elongation and Termination


steps.

BIO095 (2013/2014)

CONTENT
4.

Gene Regulation and expression

5.

Mendelian genetics
i.

Monohybrid inheritance

ii.

Dihybrid inheritance

iii.

Extension of Mendelian Genetics

PART
3

Population Genetics

6.
i.

Gene population

ii.

Hardy-Weinbergs Principle

iii.

Factor that change the frequency in population

BIO095 (2013/2014)

(1) LEARNING OBJECTIVES


i.

Explain about the DNA replication process.

ii.

Summarize how DNA replicates (semiconservative) by citing the


Meselson and Stahls experiment.

iii.

Outline the flow of genetic information process in cells, from


DNA RNA Proteins via looking at the transcription and
translation process.

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(2) LEARNING OBJECTIVES


iv.

Explain the concept of operon and gene regulation.

v.

Describe the components of lac operon and their functions in E.


coli.

vi.

Describe the mechanism of the operon in the absence and


presence of lactose.

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(3) LEARNING OBJECTIVES


vii.

Define important terms in genetics.

viii.

Describe Mendel Principles of Segregation and Independent


Assortment.

ix.

Explain population genetics, gene pool, allele frequencies and


genetic equilibrium.

x.

State and explain five assumptions of Hardy-Weinberg Law fro


genetic equilibrium.

xi.

Calculate allele and genotype frequencies.

BIO095 (2013/2014)

GLOSSARY TERMS

GENETICS

The study of inheritance, the transmission of particular


characteristics from generation to generation by means of the
genetic code which is transferred to the offspring.

Genetics is the science of heredity and variation in living


organisms.

Knowledge of the inheritance of characteristics has been implicitly


used since prehistoric times for improving crop plants and
animals through selective breeding.

However, the modern science of genetics seeks to understand the


mechanisms of inheritance.

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GLOSSARY TERMS

GENES

A basic heredity unit located on a


specific locus of a chromosome, that
determines a specific characteristic in
the organism.

A gene,

consists of a DNA segment (or RNA in


some viruses) containing a particular
sequence of nucleotides,

that codes for the synthesis of a


specific polypeptide chain or protein
in an organism.

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GLOSSARY TERMS

ALLELES

are alternative forms of the same gene & occupy the same
locus of a pair of homologous chromosomes.

Alleles are responsible for determining the contrasting


characteristics of a gene.

Example:
1.

Height of pea plant.

T dominant allele for tall stem

t recessive allele for short stem.

BIO095 (2013/2014)

GLOSSARY TERMS

LOCUS

Position of an allele on a chromosome or within a DNA


molecule.

The 2 alleles of a gene occupy the same locus on a pair of


homologous chromosomes.

DOMINANT ALLELE

The allele that produces the phenotypic characteristic in the


presence of homozygous or heterozygous condition.

i.e. when a dominant allele is paired with a recessive


allele, it masks (cover) the effect of the recessive allele on
a particular trait.

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GLOSSARY TERMS

RECESSIVE ALLELE

The phenotypic characteristic of a recessive allele is not


expressed in the heterozygous condition.

The phenotypic characteristic is only expressed in the presence o


another identical recessive allele, that is in the homozygous
condition.

A capital letter represents a dominant allele,

a small letter represents a recessive allele

TRAIT

Each variant for a characteristic.

Example: Tall stem or short stem for pea plant height is

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GLOSSARY TERMS
Another example:

black hair is the dominant trait and can be marked by


the capital letter B; wherelse

blonde hair is a recessive trait that can be marked by


the small letter b.

BIO095 (2013/2014)

GLOSSARY TERMS

GENOTYPE

The genetic makeup or set of alleles, of an organism.

Usually refer to the allelic components of a


particular gene or set of genes, and may also refer
to the entire genome of an organism.

PHENOTYPE

The physical or physiological traits of an organism,

which are determined by its genotype (genetic


makeup).

Example: height, eye color, human blood type.

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GLOSSARY TERMS

HOMOZYGOTE

Describing an organism or cell where both alleles of a gene


at a given locus on a pair of homologous chromosomes are
IDENTICAL.

They may be either:


i.

ii.

Homozygous dominant

individual has a pair of dominant alleles.

Example: (BB) for the hair color trait (black).

Homozygous recessive

individual has a pair of recessive alleles .

Example: (bb) for the hair color trait (blonde).

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GLOSSARY TERMS

HETEROZYGOTE

Describing an organism or cell where the alleles of a


gene at a given locus on homologous chromosomes are
DIFFERENT.

The observable trait is determined by the dominant


allele.

A heterozygous individual has a pair of nonidentical


allele .

Example: Bb for the hair color trait. (Black)

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GLOSSARY TERMS

.: In order to see which gene will be expressed in a particular


individual, we have to see whether it is:

a homozygous dominant,

Heterozygous, or

homozygous recessive condition

In human, a diploid cell (2n) has:

22 pairs of homologous chromosomes called the


autosomes, and

1 pair of sex chromosomes.

a human somatic cell has 23 pair of chromosomes (2n =


46)

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GLOSSARY TERMS

PURE LINE

A population of organisms all having a same particular trait, that has been
genetically unchanged through may generations.

The organisms are homozygous & shows pure breeding for the trait
concerned.

P1 GENERATION

First parental generation (i.e. the immediate parents of the F 1 generation)

F1 GENERATION (first filial generation)

They should be homozygous.

The first generation of offspring from a cross of first parental (P 1) generation.

F2 GENERATION (second filial generation)

The second generation produced by crossing 2 F individuals.

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GLOSSARY TERMS
Genotype

Described as

Phenotype

BB

Homozygous
dominant

Black hair

Bb

Heterozygous

Black hair

bb

Homozygous
recessive

Blonde hair

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MENDELIAN GENETICS
Monohybrid Inheritance
Dihybrid Inheritance

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Gregor Johann Mendel (1822 1884)

He was an Austrian priest and scientist .

Remembered as The Father of Modern


Genetics.

for his study on the inheritance of traits in


pea plants.

Was inspired to study variation in plants.

He conducted his study in the monastery's


garden.

Between 1856 and 1863,

Mendel cultivated and tested some 29,000


pea plants (Pisum sativum)

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MENDELS EXPERIMENTS & DISCOVERIES

At Mendels time, people taught that traits of the parents


are blended together in the offspring.

From his observation, he realized that this is not true.

If offspring is a results of blending the parents trait,

the result of the cross between a purple flower and a


white flower

the result would be pale purple

However, this is not evidenced

BIO095 (2013/2014)

MENDELS EXPERIMENTS & DISCOVERIES

Mendel were genius enough to choose pea plants


because:

Pea plants is easy to grow

Pea plants come in many varieties

Pea plants carry out controlled pollination (self


fertilization)

Pea plants have petals that completely closed its


reproductive structures,

therefore it is easier to control pollination

BIO095 (2013/2014)

MENDELS EXPERIMENTS & DISCOVERIES


Pea plant

The sex organs of a pea plant are in its flower.

Each pea flower has both sex organs.

Male Stamens

Female Carpel

In nature, pea plants usually self-fertilize.

Self-fertilize

Pollen grains released from the stamens lands on the carpel


of the same flower.

Sperms from the fertilize ova in the carpel.

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MENDELS EXPERIMENTS & DISCOVERIES


CROSS-POLLINATION

Fertilization between different plant.

The transfer of pollen from flowers of one plant to flowers of


another plant of the same species.

To carry out cross-pollination in pea plant, Mendel:

removed the immature stamens of a plant before they


produce pollen,

then dusted pollen from another plant into the emasculated


flowers.

Each resulting zygote then developed into embryo encased in


a seed (pea)

A GENETIC CROSS
(Hybridization)

Remove stamens from purple


flower.
Transferred pollen from
stamens of white flower
to carpel of purple flower.

Pollinated carpel matured into


pod.

Seeds from pod are


planted.
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Offspring:
All purple flowers.

The character of interest FLOWER COLOR


Pollen from a white flower fertilizes ova of a purple flower.
The first generation (F1) hybrids all have purple flowers.
The result is the same for the RECIPROCAL CROSS i.e. the transfer
of pollen from a purple flowers to white flowers.

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MENDELS EXPERIMENTS & DISCOVERIES

CHARACTER

Is a heritable feature,

Example: flower color, that varies among individuals.

TRAIT

A trait is the different variant for a character,

Example: Purple or white color for flowers.

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MENDELS EXPERIMENTS & DISCOVERIES

True-breeding

Plant variety that when the plant self-pollinate,

all their offspring are of the same variety (have the


same trait(s))

Example:

A plant with purple flowers is true-breeding if seeds


produced by self-pollination,

all give rise to plants (offspring) with purple flowers


too.

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MENDELS EXPERIMENTS & DISCOVERIES

Mendel cross pollinated 2 contrasting true-breeding pea varieties:

Purple-flowered plants & white-flowered plants.

Hybridization,

Mating or crossing of 2 true-breeding varieties.

P generation (Parental generation)

(Monohybrid cross)

True-breeding parents.

F1 generation (First filial generation)

Hybrid offspring of P generation.

filial = son

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MENDELS EXPERIMENTS & DISCOVERIES

F1 hybrids to self-pollinated & produces F2 generation

F2 generation Second filial generation

Mendel usually followed traits for at least these 3


generations.

The P, F1 & F2 generations.

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MENDELS EXPERIMENTS & DISCOVERIES


Based

on Mendels quantitative analysis of F2

plants, have revealed the 2 fundamental


principles of heredity:

1. The

Law of Segregation

2. The

Law of Independent Assortment

BIO095 (2013/2014)

MONOHYBRID
INHERITANCE &
THE PRINCIPLE OF
SEGREGATION

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MONOHYBRID INHERITANCE

The cross between purple-flowered & white-flowered pea


plants,

produces F1 hybrids (offspring) with all purple flowers.

Mendel allowed the F1 plant to self-pollinate & planted their


seed.

In the F2 generation,

the white-flowered trait reappeared


produces pea plants with the ratio of 3 purple to 1 white

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MONOHYBRID INHERITANCE
Purple flower is a
dominant trait
White flower is a
recessive trait

Phenotypic ratio:
3 Purple : 1 White
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MONOHYBRID INHERITANCE
Mendel

observed the same pattern of

inheritance in 6 other pea plant characters,

each represented by two traits

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THE LAW OF SEGREGATION

Mendel developed a hypothesis to explain the 3:1


inheritance pattern he observed in F2 offspring.

4 related concepts make up this model.

These concepts can be related to genes and


chromosomes

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THE LAW OF SEGREGATION


The first concept:

Alternative versions of genes account for variations in


inherited characters.

Alleles are alternative versions of a gene / variants of a gene.

Each gene resides at a specific locus on a specific chromosome.

At that locus, the DNA:

vary in its sequence of nucleotides.


.: differ in its information content.

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THE LAW OF SEGREGATION

The homologous pair of chromosomes represent an F1


hybrid (with the gene for flower color) which inherited:

The purple flower allele from 1 parent, &

The white flower allele from the other parent.

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THE LAW OF SEGREGATION

The second concept:

For each character, an organism inherits 2 alleles, one from each


parent.

A diploid organism has homologous pairs of chromosomes,

one chromosome of each pair is inherited from each parent.

A genetic locus is represented twice in a diploid cell.

Homologous loci (on a pair of homologous chromosomes) may have:

2 identical alleles - as in the true-breeding plants of Mendels P


generation

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THE LAW OF SEGREGATION


The third concept:

If the 2 alleles at a locus differ, then one (the dominant


allele) determines the organisms appearance, and the
other (the recessive allele) has no noticeable effect on the
organisms appearance.

In the flower-color example, the F1 plants had purple flowers because:

The purple-flower allele is dominant &

The white-flower allele is recessive.

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THE LAW OF SEGREGATION


The fourth concept now known as the LAW OF SEGREGATION,
states that

the 2 alleles for a heritable character separate (segregate)


during gamete formation and end up in different gametes.

This segregation of alleles corresponds to:

the distribution of homologous chromosomes to different


gametes in meiosis.

Thus, an egg or a sperm gets only one of the two alleles that are
present in the somatic cells of an organism.

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Monohybrid Inheritance: PUNNETT SQUARE

Mendels segregation model accounts for,

the 3:1 phenotypic ratio observed in the F2 generation.

Punnett square,

shows the possible combinations of sperm and egg,

predicts the results of a genetic cross between individuals


of known genotype (genetic makeup).

A capital letter represents a dominant allele.

A lowercase letter represents a recessive allele.

1.

True-breeding plant of the parental


generation.

2. Each gamete contains 1 allele for


the flower color gene.
3. Parental gametes unite,
. Produces F1 hybrid with genotype
Pp.
. All have purple flower.
4.
.
.
.

F1 hybrid produces gametes:


of the gametes receive P allele
of the gametes receive p allele
(the allele segregate)

5. Punnett square shows all possible


combinations of alleles in
offspring.

6. Genotypic ratio: PP : Pp :
pp
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Genetic Vocabulary
Homozygous

An organism having a pair of identical alleles for the gene


controlling a character.

Example: True-breeding pea plant with genotype:

PP Homozygote dominant have purple flower

pp Homozygote recessive have white flower

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Genetic Vocabulary
Heterozygous

An organism having 2 different alleles for a gene


controlling a character are heterozygous for that gene.

Heterozygotes are not true-breeding.

Example:

The F1 generation with genotype Pp,

self-pollinate & produces both:


Purple-flowered

& white-flowered offspring.

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Genetic Vocabulary
MONOHYBRID

An organism that is heterozygous with respect to a single gene of


interest.

Monohybrid results from a cross between parents (true-breed) for different


alleles.

Mendel performs breeding experiments which involves only a single


(mono) character (e.g. flower color),

to derive The Law of Segregation

the hybrid produced are monohybrids (heterozygous for one


character).

Example:

Parents of genotype AA & aa

Genetic Vocabulary

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Phenotype

The physical
(appearance) &
physiological traits
of an organism.

Genotype

The genetic make


up of an organism.

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DIHYBRID INHERITANCE
&
THE PRINCIPLE OF
INDEPENDENT ASSORTMENT

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DIHYBRID INHERITANCE
DIHYBRID

An organism that is heterozygous with respect to 2 genes of interest


(heterozygous for 2 characters).

Dihybrid results from a cross between

2 true-breeding parents (homozygous for different alleles) differing in 2


characters.

(Involves 2 characters 2 genes)

Example: Parents of genotpye AABB & aabb produces a dihybrid of genotype AaBb.

Parents

Gametes :

Offspring :

AABB

A
B

aabb
ab

AaBb

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DIHYBRID INHERITANCE
Example:

Crossing 2 true-breeding pea varieties (which differ in 2


characters), i.e. a parental cross between:

a plant with yellow-round seeds (YYRR) &

a plant with green-wrinkled seed (yyrr).

Y =

Yellow seeds

(dominant
Alleles for seed color

allele)
y

Green seeds

(recessive

allele)
R =

Round seeds
allele)

(dominant

Alleles for seed


shape

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DIHYBRID INHERITANCE

The crossing produce the F1 plants, that:

are dihybrids,

with genotype YyRr (heterozygous for both characters)

exhibit both dominant phenotypes : Yellow-round seed.


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DIHYBRID INHERITANCE

The F1 hybrids are allow to self-pollinate to produce F2 offspring.

In the production of gametes of F1 dihybrid (YyRr),

the alleles for seed color (Y & y) segregate independently


of the alleles for seed shape (R & r)

.: each gamete has 1 allele for each gene.

F1 gametes produced

YR

yR

Yr

yr

There will be 16 (4 X 4) probable ways of the alleles can combine


in the F2 generation.

These combinations produces F2 offspring with phenotypic ratio


of:

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DIHYBRID INHERITANCE

Phenotypic ratio:

9 yellow-round :

3 green-round :

3 yellowwrinkled :

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1 green-wrinkled

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DIHYBRID INHERITANCE

Genotypic ratio:

9/16 Y_R_ : 3/16 yyR_ : 3/16 Y_rr : 1/ 16 yyrr

Phenotypic ratio:

9/16 yellow-round : 3/16 green-round : 3/16 yellow-wrinkled : 1/16 greenwrinkled

From the dihybrid cross, Mendel discovered that:


i.

9 have at least one copy of the dominant alleles R and Y.

ii.

3 have at least one copy of the dominant allele R and are homozygous for yy.

iii.

3 have at least one copy of the dominant allele Y and are homozygous for rr.

iv.

1 combination is homozygous for rr and yy.

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THE LAW OF INDEPENDENT ASSORTMENT

Using a dihybrid cross, Mendel developed:

The Law Of Independent Assortment

The law of independent assortment states that:

each pair of alleles (from 1 gene) segregates independently


of each other pair of alleles (from another gene) during
gamete formation.

This law applies only to genes on different, nonhomologous


chromosomes.

Genes located near each other on the same chromosome tend to be


inherited together.

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CHROMOSOMAL EXPLANATION
OF INDEPENDENT
ASSORTMENT

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Relating Mendelism To Chromosomes

Mitosis and meiosis were first described in the late 1800s.

The chromosome theory of inheritance states:

Mendelian genes have specific loci (positions) on chromosomes.

Chromosomes undergo segregation and independent


assortment.

The behavior of chromosomes during meiosis was said to account


for:

Mendels laws of segregation & independent


assortment.

Correlating the results of Mendels dihybrid cross with the behavior of


chromosomes.

- Each gametes gets 1 allele from each gene.

Crossing between 2 parents that are true-breeding. Involves 2 genes:


o The gene for seed shape (alleles R & r)
o The gene for seed color (Y & y)

These genes are on different chromosomes.

59

Us

Fertilization among the F1


plants

- Fertilization recombines
alleles (from each gene) at
randoms.
- Each individual gets random
recombination of alleles for
each gene.

Fertilization
results in the
9:3:3:1
phenotypic ratio
in the F2
generation.

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EXTENDING MENDELIAN
GENETICS
Codominance
Incomplete Dominance
Multiple Alleles
Epistasis
Polygenic Inheritance

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Gene Interaction

Mendel was lucky to choose pea plants because,

they most of the characters of pea plants are


determined by one gene with two alleles dominant
and recessive.

However, this condition cannot always be met in nature

There are also other hereditary patterns that was not


reported by Mendel.

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Gene Interaction

Morphological features are all affected by the expression of


many different genes in combination with environmental
factors.

Example of morphological features height, weight, growth


rate & pigmentation

GENE INTERACTION:

2 or more different genes influence the outcome of a single


trait.

well look at:

How 2 genes will affect the same trait.

There are many different ways that the alleles of 2 genes may

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CODOMINANCE

In cases where there is an absence in complete dominance,

codominance & incomplete dominance can be one of the


cause.

CODOMINANCE

The phenomenon in which 2 alleles are both expressed in


the heterozygous.

With codominance,

a cross between organisms with 2 different phenotypes


produces offspring with a third phenotype in which both of
the parental traits appear together.

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CODOMINANCE

Examples:
1.

Roan fur in cattle

2.

The ABO blood

Roan fur in cattle

Cattle can be:

Red (RR = all red hairs),

White (WW = all white hairs),


or

Roan (RW = red & white hairs


together).

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CODOMINANCE
ABO Blood Group

The ABO group of antigen,

determine blood type in human.

is also an example of multiple alleles inheritance.

The plasma membrane of RBC contains surface antigens.

3 types of RBC surface antigens: A, B & O.

The synthesis of these antigens is controlled by 3 alleles: IA,


IB & i.

Allele i is recessive to both IA & IB alleles.

Codominance : ABO Blood Group


The ABO Blood Group

Blood
type:

AB

Genotype
:

ii

IAIA or IAi

IBIB or IBi

IAIB

Surface
antigen:

A&B

Against A &
B

Against B

Against A

None

Serum
antibodie
s

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CODOMINANCE

The A blood individual,

Genotype: Homozygous (IAIA) or Heterozygous (IAi)

RBC contains the surface antigen A.

The B blood individual,

Genotype: Homozygous (IBIB) or Heterozygous (IBi)

RBC contain the surface antigen B.

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CODOMINANCE
The blood type AB individual,

Genotype: Heterozygous (IAIB)

Express both surface antigen A & B.

The IA & IB alleles are codominant to each other.

In this case, neither allele is dominant to the other.

Therefore, because each allele is fully expressed, they


are said to be codominant.

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Incomplete Dominance Intermediate


Phenotype
Incomplete dominance

The pattern of inheritance where,

the heterozygote (that carries 2 different alleles) has a


phenotype that is intermediate between either
corresponding homozygous parents.

With incomplete dominance,

a cross between organisms with two different phenotypes


produces offspring with a third phenotype that is a
blending of the parental traits.

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Incomplete Dominance Intermediate


Phenotype
Examples:
The

four-oclock plant (Mirabilis

jalapa)

is observed for flower color alleles.

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Incomplete Dominance Intermediate


Phenotype

A homozygous red-flowered (CRCR)


four-oclock plant was crossed to a
homozygous white-flowered
(CWCW) plant.

Alleles involved:

CR = Wild-type allele for red flower.

CW = Wild-type allele for white


flower.

F1 offspring All had pink flower


(100%).

F1 generation were allowed to self-

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Incomplete Dominance Intermediate


Phenotype

F2 generation produced, with


phenotypic ratio of:
o red-flowered plants ;
o pink-flowered plants ;
o white-flowered plants.

self-fertilized

The pink-flowered plants:


o are heterozygotes (CRCW)
o has intermediate
phenotype.

F2 generation displays a 1:2:1


ratio (for both genotypic &

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Incomplete Dominance Intermediate


Phenotype

F2 generation:

Genotypic ratio:

1 CRCR : 2 CRCW : 1 CwCW


self-fertilized

Phenotypic ratio

1 red-flowered : 2 pinkflowered : 1 white-flowered

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MULTIPLE ALLELES

A gene can exist in multiple alleles that are different


from each other

Because alleles represent different forms of a gene,

.: a gene can have more than 2 alleles.

Any individual can carry only 2 alleles of a gene,

but in the population, many different alleles of a


gene can be present.

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MULTIPLE ALLELES
Example 1:

The gene that determines ABO blood group in human.

ABO blood types are determined by antigen molecules on the


surface of RBCs.

There is one gene (I) for ABO blood types, with 3 alleles IA, IB
and iO

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MULTIPLE ALLELES

The A & B alleles,

control the formation of slightly different forms of the molecule


(antigens) on the surface of the RBCs, &

determine whether the person has an A, B or AB blood group.

The third allele O,

does not make any antigen, &

individuals homozygous for this allele (io), carry neither the A


nor the B antigen on their cells.

Because of the 3 alleles, there are 6 possible genotypes.

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MULTIPLE ALLELES
Blood Type
(Phenotype)

Genotype

IAIA, IAiO

IBIB, IBiO

AB

IAIB

ioio

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MULTIPLE ALLELES
Example 2:

Coat color in rabbits is controlled by multiple alleles.

There are 4 different alleles:

Alleles

Contribution to phenotype at

Phenotype

molecular level

(Coat color traits)

Wild type allele, C

Provides full coat color

Full coat color

Chinchilla allele, cch

Produces a partial defect in

Chinchilla pattern coat

pigmentation.

color

Result in pigmentation in

Himalayan pattern coat

certain body parts.

color

Defective allele.

Albino

Cannot produce a protein

Himalayan allele, ch

Albino allele, c

required for pigment synthesis.

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MULTIPLE ALLELES

The relationship between alleles:


C

- is dominant to cch, ch & c.

cch

- is recessive to C
- is dominant to ch, & c

ch

- is recessive to C & cch


- is dominant to c

- is recessive to C, cch, ch

A rabbit can inherit only 2 copies of these alleles.

The phenotype depends on the dominant / recessive


relationships among these combinations.

Phenotype

Genotype

a) Full coat color

CC
Ccch
Cch
Cc

b) Chincilla

- cchcch
- cchch
- cchcc

c) Himalayan

- c hc h
- c hc

d) Albino

- cc

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EPISTASIS
EPISTASIS
A

phenomenon in which a gene at one locus can

mask (suppresses) the phenotypic expression


of a different gene at a second locus.

These genes occupy different loci on separate


chromosome & are independently inherited.

An example of gene interaction.

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EPISTASIS
Example: Inheritance of coat color in mice
In

mice, black coat color is dominant to brown

The

1st gene: code for black or brown

pigment control coat color.

The 2 alleles for this character: B & b

The genotype for mouse with brown fur bb

BIO095 (2013/2014)

EPISTASIS

The 2nd gene: Determines whether or not pigment will be


deposited in the hair.

The 2 alleles for this character: C& c

The dominant allele, C (for color),

results in the deposition of black or brown pigment,

(depending on the genotype at the 1st locus)

But if the mouse is homozygous recessive, cc (for the 2nd locus),


the coat is white (albino), (no pigment deposition)

(regardless of the genotype at the black/brown locus)

BIO095 (2013/2014)

EPISTASIS

.: the gene for pigment deposition (C/c) is


epistatic to the gene that codes for black or brown
pigment (B/b)

Crossing 2 black mice that are heterozygous for both


genes (BbCc).

The phenotypic ratio of the offspring produced


are:
9

black : 3 brown : 4 white

BIO095 (2013/2014)

POLYGENIC INHERITANCE

Many character, such as human skin color & height,

vary in the population along a continuum (in gradations).

These are called quantitative characters.

Quantitative characters

A heritable feature in a population that varies continuously


as a result of environmental influences & the additive effect
of 2 or more genes (polygenic inheritance).

Quantitative variation usually indicates polygenic


inheritance.

BIO095 (2013/2014)

POLYGENIC INHERITANCE

POLYGENIC INHERITANCE an additive effect of 2 or more


genes on a single phenotypic character.

These genes may be located on many different pairs of


chromosomes.

Each dominant allele has a quantitative and additive effect on


the phenotype.

This result in a continuous variation in phenotypes,

resulting in a distribution of these phenotypes that resembles


a bell-shaped curve called normal distribution.

BIO095 (2013/2014)

POLYGENIC INHERITANCE
Example:

Skin pigmentation in humans,

is controlled by at least 3 separately inherited genes


(probably more).

Lets consider 3 genes, A, B, C


Each

gene has a dark-skin allele which contribute

1 unit of darkness to the phenotype.


The

dark-skin allele (A, B & C) is incompletely

dominant to a / b/ c alleles.

BIO095 (2013/2014)

POLYGENIC INHERITANCE

Person with genotype:

1.

AABBCC very dark

2.

aabbcc very light

3.

AaBbCc have intermediate skin shade

The alleles have a cumulative effects.

.: the genotype AaBbCc & AABbcc would make the same genetic
contribution (3 units) to skin darkness.

Environmental factors, e.g. exposure to sun, also affect the skin color
phenotype

& help make the graph a smooth curve (normal distribution) rather than
a stairs like histogram.

BIO095 (2013/2014)

In the case of height,

differences in nutrition ensure a bell-shaped curve

BIO095 (2013/2014)

POLYGENIC INHERITANCE

Eye color & skin color,

are the cumulative result of many genes involved in the


production and distribution of melanin.

Many human disorders such as

Cleft lip/palate,

Diabetes,

Allergies, &

cancers

are controlled by polygenes and are subjected to


environmental influences.

The end of Part 3!!

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