PRINCIPLE OF INHERITANCE

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GENETICS
The study of heredity.

Engr. Yvonne Ligaya F. Musico

 Gregor Mendel
Was the first person to
analyze patterns of
inheritance.
An Austrian monk and
scientist who started the
modern genetics in 1860.
Deduced the fundamental
principles of genetics

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In an Abbey Garden
Mendel studied garden
peas
These plant are easily
manipulated
These plants can selffertilize
The seed of the pea
plants are easy to obtain
and reproduce in only
about 90 days.

Stamen
Carpel

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1 Removed stamens
from purple flower

Carpel
Parents
(P)

White

Stamens
2 Transferred pollen
from stamens of
white flower to
Purple carpel of purple
flower
3 Pollinated carpel
matured into pod

4 Planted seeds
from pod

Offspring
(F1)

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Mendels experiment
Mendel carried some cross-fertilization.
He also created true-breeding varieties of
plants
Mendel then crossed two different truebreeding varieties, creating hybrids
Hybrid - An organism that receives different
genetic information for a trait from each parent.

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Mendel tracked several characteristics in pea plants

from which he formulated several hypotheses.
Dominant

Flower color

Purple

Recessive

Axial

Terminal

Seed color

Yellow

Green

Round

Recessive

Pod shape

Inflated

Constricted

Pod Color

Green

Yellow

Stem length

Tall

White

Flower position

Seed shape

Dominant

Dwarf

Wrinkled

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Monohybrid Crosses
A monohybrid
cross is a cross
between parent
plants that differ in
only one
characteristic

P Generation
(true-breeding
parents)
Purple
flowers

White
flowers
All plants have
purple flowers

F1 Generation

Fertilization
among F1 plants
(F1 F1)
F2 Generation
/4 of plants
have purple
flowers
3

(a) Mendels crosses tracking one

(flower color)
Engr. characteristic
Yvonne Ligaya F. Musico

/4 of plants
have white
flowers
1

Mendel developed 4 hypotheses from

the monohybrid cross
1.

There are alternative forms of genes, now

called alleles

2.

For each characteristic, each organism has two

copies of a gene; we now call them alleles
Gene - Inherited factor which control or
determine the appearance of a particular trait.

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Mendel developed 4 hypotheses from

the monohybrid cross
3. While the cells of an organism have 2 alleles for
each gene, Gametes (Egg and Sperm) carry only
one allele for each inherited characteristic
4. Alleles can be dominant or recessive. Mendel
called the trait that showed in a hybrid a
dominant trait and the trait that did not show in
the hybrid, the recessive trait.

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An explanation of Mendels results, including a Punnett square

Genetic makeup (alleles)
PP
PP

P plants
Gametes

All

All p

F1 plants:
(hybrids)
Gametes

All Pp
/2

F2 plants:
Phenotypic ratio
3 purple : 1 white

Eggs

/2 p

P
PP

p
Pp

Sperm
p

Pp
pp

Genotypic ratio
1 PP : 2 Pp : 1 pp
(b) Explanation ofEngr.
the results
in11part
(a)
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F. Musico

Parents:
Wild-type

Offspring from the

mating of a wildtype with a sky-blue
bird

Firstgeneration
offspring:

Sky-blue

wild-type

All

Matings

Offspring from the

mating of two wildtype birds

Secondgeneration
offspring:

/4

Wild-type

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and

/4
Sky-blue

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 Phenotype
An organisms physical traits

Genotype
An organisms genetic makeup

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Law of Segregation
Pairs of alleles segregate (separate) during
gamete formation; the fusion of gametes at
fertilization creates allele pairs again.

Alleles - Two copies of genes for the same trait.

They are genes that have contrasting effects
on a characteristic

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 Homozygous
When an organism has identical alleles for a gene
Heterozygous
When an organism has different alleles for a gene

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Mendels Principle of Independent

Assortment
Two hypotheses for gene assortment in a
dihybrid cross (when two pairs of traits are
considered in a cross.)
Dependent assortment
Independent assortmet

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(b) Hypothesis: Independent Assortment

(a) Hypothesis: Dependent assortment

P Generation

RRYY

rryy

RRYY

Gametes RY

ry

rryy

ry

Gametes RY

RrYy

F1
Generation

RrYy

Eggs
Eggs
1

/2 ry

/2 RY

/2 RY

/2

Sperm

ry

F2
Generation

/4

/4

/4 rY

Ry

ry

/4 RY

RRYY
RrYY

RRYy
RrYy

RrYY

RrYy

/4 Ry

RRYy

Rryy

rrYy
Rryy

rryy

Actual results
support hypothesis

/4 ry

RrYy

RrYy
RRyy

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Sperm

/4 rY

rrYY

rrYy

Actual results
contradict hypothesis

/4 RY

/16

/16

Yellow round
Green round

/16

Yellow
wrinkled

/16

Green
wrinkled

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Mendels principle of independent assortment

Each pair of alleles segregates independently of
the other pairs during gamete formation
Blind

Phenotypes
Genotypes

Black coat,
normal vision
B_N_

Black coat,
blind(PRA)
B_nn

Blind

Chocolate coat,
normal vision
bbN_

Chocolate coat,
blind (PRA)
bbnn

(a)

Mating of heterozygotes
(black, normal vision)
Phenotypic ratio
of offspring
(b)

BbNn
9 black coat,
normal vision

3 black coat,
blind (PRA)

BbNn
3 chocolate coat,
normal vision

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1 chocolate coat,
blind (PRA)
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Using a Testcross to Determine an

Unknown Genotype
A testcross is a
mating between
An individual
of unknown
genotype and
A homozygous
recessive
individual

Testcross:
Genotypes

P_

pp

Two possibilities for the purple flower:

PP
Gametes

P
P

Offspring

Pp

Pp

All purple

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P
p

Pp

p
pp

1 purple : 1 white
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The Rules of Probability

The rule of
multiplication
The probability
of a compound
event is the
product of the
separate
probabilities of
the independent
events

F1 Genotypes
B b male

B b female
Formation of eggs

Formation of sperm

/2

B
1

/2

b
1

/4

/2

/2

(1/2 1/2)

B
1

/4

b
F2 Genotypes
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b
/4

b
1

/4
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Mendels
principles apply
to the
inheritance of
many human
traits

Dominant Traits

Recessive Traits

Freckles

No freckles

Widows peak

Straight hairline

Free earlobe

Attached earlobe

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 Family Pedigree
Shows the history of a trait in a family
Allows researchers to analyze human traits
Female

Dd
Joshua
Lambert

Dd
Abigail
Linnell

D_
Abigail
Lambert

D_
John
Eddy

dd
Jonathan
Lambert

Dd

Dd

dd

D_
Hepzibah
Daggett

Male
Deaf
Hearing

Dd
Elizabeth
Eddy

Dd
Dd
Dd
dd
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Incomplete dominance
Cases in which neither allele is dominant over the
other.
A heterozygote shows a phenotype that is
intermediate (blend of the phenotype of two allele)
between the two homozygous phenotype.
CODOMINANCE - Condition when the
heterozygotes exhibit the trait of both parents.

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Example of Incomplete Dominance

1. The homozygous of Andalusian fowl(type of bird)
are either black or white. Hybrid appear blud.
2. The homozygous of four oclock flowers are red or
white, while heterozygous flowers are pink.

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Human Disorders Controlled by a

Single Gene
Many human traits
Show simple inheritance patterns
Are controlled by genes on autosomes

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Engr. Yvonne Ligaya F. Musico

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Recessive Disorders
Most human genetic disorders are recessive
Individuals can be carriers of these diseases
Normal
Dd

Parents:

Normal
Dd

D
Eggs

DD
Normal

d
Offspring:

D
Sperm
d

Dd
Normal
(carrier)

Dd
Normal
(carrier)
dd
Deaf

Engr. Yvonne Ligaya F. Musico

Figure 9.16
27

Dominant Disorders

Some human genetic

disorders are dominant
Achondroplasia is a form
of dwarfism

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Figure 9.17
28

Traits Controlled by Multiple Allele

Some traits are controlled by multiple alleles, where
there are more than two alleles in a species.
Human blood types are good example of inheritance
through multiple allele.
The ABO group of blood proteins have alleles of
blood type A, B and O. The A and B alleles both
dominant over the other.

Engr. Yvonne Ligaya F. Musico

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Traits Determined by Multiple Genes

Polygenic Trait - A polygenic trait is one
which is controlled by two or more gene
pairs.
Polyploidy - A change in chromosome
member involving 3 or more sets of
organism has.
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Polygenic Inheritance
P Generation
aabbcc
(very light)

Polygenic Inheritance
is the additive effects
of two or more genes
on a single phenotype

AABBCC
(very dark)

F1 Generation
AaBbCc

AaBbCc

F2 Generation
Eggs

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Sperm

Figure 9.22
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Examples of Polygenic Inheritance

Human Eye Color
Eye color is determined by the amount of
pigment melanin.
Several different pair of genes control the
production of melanin in the eyes.
Facial Feature
Many genes involved in such traits and also
have multiple alleles
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Sex determination
XX chromosomes Female
XY chromosomes - Male

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Sex-linked traits
Sex-linked disorders such as color blindness
and hemophilia are caused by recessive genes
located on the X-chromosome,

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Sex-linked traits
Hemophilia the inability of
blood to clot. Hemophilia
causes uncontrollable internal
bleeding into the kidneys,
brain and other vital organs.

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Sex-linked traits
The most famous carrier of
hemophilia was Queen Victoria who
unknowingly passed the gene on
one of her son and two of her
daughter.
Fortunately, the gene for hemophilia
has not been passed on to any of the
current European royalty
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http://www.knowledgene.com/public/view.php3?db=gene_school&uid=35

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Leopold
suffered from
frequent
hemorrhages
and died of one
at the age of
31.
http://www.knowledgene.com/public/view.php3?db=gene_school&uid=35

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Beatrices
lineage is the
link between
Queen
Victoria and
the Spanish
connection to
hemophilia.

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Queen
Victoria's third
child, Alice,
passed
hemophilia to
the German
and Russian
royal families.

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Hemophilia in Royal Families Today

Fortunately, Leopold was the only one of Queen
Victoria's sons who suffered from hemophilia.
Her other three sons, Edward, Alfred, and
Arthur, were unaffected.
Since the present royal family of England
descended from Edward VII, the first son, it is
free from hemophilia.

Engr. Yvonne Ligaya F. Musico

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Sex-linked Traits
Not all sex-linked genes are located on the X
chromosome.
The gene for hair earlobes occur on the Y
chromosome. This trait never appears in women.

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Sex-limited traits
Sex-limited Traits genes are expressed only
if they are carried by an individual of a
particular sex.
Example:
Heavy beard appears only in men.

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Sex-influenced traits
Certain genes are dominant in one sex and
recessive in the other.
Example:
Baldness is dominant in men and recessive in
women.

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Some important terms

Lethal Genes - Genes which are in
homozygous condition that causes death.
Mutation - A change in genetic material of
organism.

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Some important terms

Pleiotropy - The ability of a single gene to have a
multiple effects.
For example,
the gene that controls fur pigmentation in Siamese
cats also influence the connection between a cats
eyes and its brain. A defective gene causes both
abnormal pigmentation and cross-eye. Tigers with
abnormal pigmentation also tend to be cross-eyed.

Engr. Yvonne Ligaya F. Musico

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The vast majority of women have healthy

pregnancies and their babies are born
without difficulties. However, women
with high-risk pregnancies often need a
close watch for potential problems or
complications.

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Fetal testing
Alpha-Fetoprotein Screening (AFP)
A blood test that measures the level of alphafetoprotein in the mothers' blood during
pregnancy.

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Fetal testing
Amniocentesis
a procedure used to obtain
a small sample of the
amniotic fluid that
surrounds the fetus to
diagnose chromosomal
disorders and open neural
tube defects (ONTDs)

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Fetal testing
Ultrasound Scan
A diagnostic technique which uses high-frequency
sound
waves to create an image of the internal organs.
A screening ultrasound is sometimes done during the
course of a pregnancy to monitor normal fetal growth
and verify the due date.

Engr. Yvonne Ligaya F. Musico

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Fetal testing
Chorionic Villi (Villus) Sampling (CVS)
A prenatal test that involves taking a
sample of some of the placental tissue.
This tissue contains the same genetic
material as the fetus and can be tested
for chromosomal abnormalities and
some other genetic problems

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The Role of Environment

Many human characteristics result from a
combination of heredity and environment

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Acknowledgement
Special thanks to.
Pearson Education Incorporated, Inc
Publishing as Benjamin Cummings (2004)

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Thanks for Listening