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The Law of Inheritance

The genetics modern theory was started in a


garden of a monk, name Gregor Mendel
where he recorded a mechanism to inherit
particulate traits, termed the Theory of
Particulate Inheritance.
In that theory, Mendel explained the
phenomenon of genes (hereditary factor)
through the law of segregation.

Glossary

Parental
Filial
Dominant
Recessive
Genotype
Phenotype
Intermediate

Mendels Law
Mendels First Law
Mendels Second Law

Mendels First Law


Mendels first law, or also known as the law of
segregation is the rule about allele
segregation during gamete formation, when in
that time diploid alleles segregate or separate
independently into haploid ones.
The application from Mendels first law is a
monohybrid cross.

Monohybrid Cross

Mendels Second Law


Mendels second law or the law of
independent assortment (the Mendelian law
of independent assortment).
It guards the independent assortment that
follows gamete formation during dihybrid
cross, thus it can be seen in dihybrid cross.
Dihybrid Cross is a cross that produces the
inheritance of two different traits.

Dihybrid Cross

Testcross
Backcross
Resiprocal Cross

Testcross
Testcross is a cross between two parental
individuals, one with an unknown genotype
and the other genotype is recessive
homozygous.
Testcross may be carried out with a nonparental individual with one condition that
one is recessive homozygous.

Monohybrid Testcross

Backcross
Backcross is the ating of a hybird organism
(offspring f genetically unlike parents) or a
heterozygous organism with one of its parents
(usually with the dominant phenotype) or
with an organism genetically similar to the
parent.

Reciprocal Cross
A reciprocal cross is a cross where the
phenotype of each sex is reversed as
compared with the original cross, to test the
role of parental sex on an inheritance pattern.

Deviation of Mendels Laws


The deviation occurs because of interactions
between alleles of the genes

Allelic Interactions

Incomplete dominance
Codominance
Multiple alleles
Lethal alleles

Incomplete Dominance
In incomplete dominance, the dominant allele
cannot fully cover up the phenotypic
expression of the recessive allele.
As a result, heterozygous individuals express a
mixture of the two phenotypes.

Incomplete Dominance Cross

Codominance
Codominance is the event when two alleles of
a gene produce completely different traits to
the individual allele, and they dont influence
one another.
In codominance, heterozygous individu has
phenotype associated with both of the parent
alleles.

Codominance Cross

Multiple Alleles
Multiple alleles are the phenomena where
there are three or more alleles of a gene.
Generally, a gene has two alleles.
Multiple alleles may have arisen from
mutation (the change in molecular structure
of DNA that is inherited to the next
generation).
A mutation may produce many allelic
variations.

Lethal Allele
A Lethal Allele is an allele that can cause death
for the organism bearing it.
Death occurs because the original gene of the
lethal allele is involved in a trait related to
viability.
The presence of a lethal allele will cause
disturbance to the trait expression and may
render the organism dead.

Recessive Lethal Allele


Recessive Lethal Allele is an allele that causes
death in recessive homozygotes.
Heterozygous individuals live normally and
show no symptomps of the defect.
An example is albinism in plants and in
bulldog cow.

Dominant Lethal Allele


A dominant lethal allele is lethal whenever the
dominant allele is present. This means the
homozygous dominant and heterozygous
individuals are rarely found in populations
compared to the recessive lethal allele.
The example is creeper chicken.

SEX DETERMINATION
1.
2.
3.
4.

Sex
Sex
Sex
Sex

Determination
Determination
Determination
Determination

of XY Type
of XO Type
of ZW Type
in Honey Bee

Sex Determination of XY Type

Sel telur

Sperma

|
X

||
XX

|
X

||
XY

semua

Sex Determination of XO Type


Sex determination in Locuts

Sex Determination of ZW Type

Sex determination in chickens

Sex Determination in Honey Bee

Sex determination in honey bees

Human Genetic Abnormalities and


Disorders

Definition of Genetic Abnormalities and Disorders.


a) Genetic abnormality is the deviation of general or
normal characteristic in humans. Because this is a
form of deviation, persons suffering from it are also
rare or not commonly met.
b) Genetic disorders are the non functioning of genetic factors that
control the stucture and physiological functions of human body.
Genetic disorders cause varying degree of medical problems

Human Genetic Abnormalities and


Disorders

Human genetic abnormalities and disorders that caused by autosomal


recessive allele inheritance
a. Albino
b. Sickle cell anemia
c. Cystic fibrosis
d. Phenylketonuria (PKU)
e. Galactosemia
f. Thalasemia

ABO BLOOD
TYPES

THE BLOOD
TYPES

RHESUS (Rh)
BLOOD
TYPES

MN BLOOD
TYPES

ABO BLOOD TYPES

The blood classification of ABO was introduced by K.


Landsteiner in 1900.

The ABO system classifies four blood types, namely A, B, AB,


and O blood types.
This classification is based on the presence or absence of
aglutination or antigen in human blood cell
THE BLOOD CLASSIFICATION OF ABO SYSTEM

Blood
Type

Aglutinogen or
Antigen

Agglutinin/
Antibody

Appropiate
Donor

Anti B

A and B

Anti A

B and O

AB

A and B

A, B, and O

A and B

ABO system of blood classification includes double


allele type.
Alleles that determine type of human blood type
consist of allele IA, IB, and IO(i).
Each of alleles IA and IB is dominant to IO, whereas IA
and IB are codominant.

THE PHENOTYPE AND GENOTYPE OF BLOOD


CLASSIFICATION IN ABO SYSTEM

Phenotype

Genotype

A blood type

IA IA, , IA IO

B blood type

IB IB , IB IO

AB blood type

IA IB

O blood type

IO IO

1.

If a male that have A blood type married with a


woman that have O blood type. Children's blood type
has some possibilities, as follows:
- P : A blood type >< O blood type
IA IA
IO IO
F:

IA

IA

IO

IA IO

IA IO

IO

IA IO

IA IO

Children are born 100% A blood type (heterozygous)

P : A blood type >< O blood type


IA IO
IO IO
F:

IA

IO

IO

IA IO

IO IO

IO

IA IO

IO IO

Children who were born 50% of blood group A


(heterozygous), 50% of blood O

Phenotype

Genotype

Aggulutinogen

M
N
MN

IMIM
ININ
IMIN

M
N
M and N

1. Landsteiner and Weiner (1946) found other


antigens, the rhesus antigen. According to
Landsteiner and Weiner, class human blood can
be divided into:
a. Rh + group, if the red blood cells are found
rhesus antigens.
b. group Rh-(Rh), when the red blood cells do
not found rhesus antigens.

Rh Type

Genotype

Reaction with Rh
Antiserum

RhRh, Rhrh

rhrh

Genotype

Men

Women

BB

Bald

Bald

Bb

Bald

Not bald

bb

Not bald

Not bald

SEX DETERMINATION
1.
2.
3.
4.

Sex
Sex
Sex
Sex

Determination
Determination
Determination
Determination

of XY Type
of XO Type
of ZW Type
in Honey Bee

Sex Determination of XY Type

Sel telur

Sperma

|
X

||
XX

|
X

||
XY

semua

Sex Determination of XO Type


Sex determination in Locuts

Sex Determination of ZW Type

Sex determination in chickens

Sex Determination in Honey Bee

Sex determination in honey bees

Human Genetic Abnormalities and


Disorders

Definition of Genetic Abnormalities and Disorders.


a) Genetic abnormality is the deviation of general or
normal characteristic in humans. Because this is a
form of deviation, persons suffering from it are also
rare or not commonly met.
b) Genetic disorders are the non functioning of genetic factors that
control the stucture and physiological functions of human body.
Genetic disorders cause varying degree of medical problems

Human Genetic Abnormalities and


Disorders

Human genetic abnormalities and disorders that caused by autosomal


recessive allele inheritance
a. Albino
b. Sickle cell anemia
c. Cystic fibrosis
d. Phenylketonuria (PKU)
e. Galactosemia
f. Thalasemia

Human Genetic
Abnormalities
and Disorders

Definition

In heredity discussion, genetic


abnormality is the deviation of
general or normal characteristics in
humans. For examples like
polydactyly (having more than 10
fingers or toes) and albinism (lack of
melanin which make the body pale).

Causes of Genetic
Abnormalities and
Disorders

Genetic abnormalities and disorders


in human are caused by mutations.

Based on the allelic characteristics ,


causes of genetic abnormalities and
disorders are grouped as follow

Dominant, single autosomal allele

Recessive, single autosomal allele

Sex-linked alleles

Chromosome aberration

Autosomal
Recessive
Allele
Inheritance

Types of
Genetic
Abnorma
lities And
Disorders

Autosomal
Dominant
Inheritance

X-Linked
Inheritance
of Recessive
Allele

Sickle-cell
Anemia
Cystic Fibrosis

Galactosemia

Achondroplasia

Brachydactyl
Huntingtons
Disease

Color
Blindness
Duchenne
Muscular
Dystrophy
Hemophilia
Fragile X
Syndrome

Genetic Abnormalities
and Disorders caused by
Autosomal Recessive
Alleles

Sickle-cell Anemia

This disease is caused by an amino


acid substitution in the hemoglobin
protein sequence

Low levels of oxygen in the blood, of a


sick person will cause his sickle cell
hemoglobin to change normal red
blood cells into sickle-shaped

Periodic pain

As a result of inbreeding

Swelling of arms and legs

Disturbance vision

Stunted growth

Susceptible to infection

Marriage of Sickle-cell Anemia

Treatment

Infusion, giving of folic acid

Antibiotics

Dialysis

Bone marrow transplant (Sum-sum


tulang)

Cystic Fibrostic

Sore caused by interference in the chloride channel


located in the epithelial layer

Patients with this disease congested fibrosis and cyst


formation in the pancreas gland, respiratory and
digestive channels. Accumulation of mucus causes
bacteria to multiply so much easier bacterial
infections, such as pneumonia can occur. This disease
is recessive, so if both parents are carriers (carriers)
of this disease gene, then one of the four children
they may be suffering from cystic fibrosis. The
disease is caused by mutations in one gene that
encode the regulatory proteins and sodium chloride
movement through cell membranes. As a result,
dehydration and thickening of the secretion occurs
that attacks almost all the endocrine glands (glands
that secrete fluids into certain channels in the body).

Frequent coughing that brings up thick


sputum.

Frequent bouts of bronchitis and


pneumonia.

They can lead to inflammation and


permanent lung damage.

Salty-tasting skin.

Dehydration.

Infertility (mostly in men).

Ongoing diarrhea or bulky, foul-smelling,


and greasy stools.

Galactosemia

Caused by recessive allele (gg).

The body can not produce enzymes that break


down lactose. Under normal conditions: lactose is
broken down into galactose.
High concentrations in the blood causing damage
to the eyes, liver, brain.

Symptoms: malnutrition, diarrhea, vomiting


(throwing up).

Can be detected through urine.

Prevention: lactose-free diet.

Disorders and Diseases


Caused by Autosomal
Domiant Alleles

Achondroplasia
is a trait of dwarfism found in one of
every 10.000 individuals.
Heterozygotes show dwarfed
phenotype. 99,99% of nonachondroplastic of the population is
recessive homozygotes (kk).

Symptoms:

1.

enlarged head,

2.

shorter arms and legs,

3.

prominent forehead,

4.

protruding jaw,

5.

crowded and misaligned teeth,

6.

forward curvature of the lower spine,

7.

bowed legs,

8.
9.

flat, short and broad feet,


loose ligaments

Brachydactyl
is a defect characterized by short fingers.
People with the brachydactyl have a
genotype with heterozygote alleles (Bb).
This defect is dominantly inherited.
Dominant homozygotes (BB) die during
embryonic development. Heterozygotes
show short finger phenotype by having
only two phalanges (out of three).
the intermediate phalange is so short
that it combines with other phalanges.

Huntingtons Disease
is a degenerative disease that attacks
the nervous system. People with the
disease undergo involuntary writhing
movement of the head. This disease or
disorder caused by a dominant allele,
all heterozygotic individuals will have
the disease.

Discovered by George Huntington in 1872


th

Attacks the nervous system.


Can only shake head in one direction.

With 1 H allele only patients had


Huntington's Disease.

Do not have symptoms until the relevant


age 35-45 years.

Fatal.

The hands and feet out of control, difficulty


concentrating, antisocial, depressed.

Disease and disorders caused


by recessive alleles linked to
x-chromosome

Color blindness

is a disorder where individuals cannot differentiate all or


some colors. Individuals who are red-green blind do not
have the proper receptors to detect light at green and
wavelengths.
Consists of:
~Total color blindness
(the patient is only can differentiate white-gray-black)
red, green, blue looks black.
visible bright yellow
~Partial color blindness
(the patient can not distinguish the colors red, green)
the patient does not have receptors that can detect light
at wavelengths of red and green.

Hemophilia

1.

Hemartrosis, which is bleeding in the large


joints (knee, elbow, ankle) are painful and swollen
joints that cause can not be driven.

2.

Could arise due to minor collisions or arising own.

3.

Also haunting bleeding under the skin and muscle.


-High hemophilia, clotting factor <1%
-Middle Hemophilia, the blood clotting factor
between 1- 5%
-Mild hemophilia, blood clotting factor between 60 30%

Duchene muscular
Dystrophy

Incidence 1: 3500 male babies (U.S.).

Symptoms: muscle weakness and


coordination.

In 30% of cases, caused by changes in the


dystrophin gene to mutation
The gene responsible for making an eye
out dystrophin protein that prevents
skeletal muscle strong and healthy.
If a mutation occurs, the protein
dystrophin is not formed, skeletal muscle
cells become weak and easily broken
down.

Other symptoms:
-easy to fall
-Difficulties when running
-Difficulty climbing
-Difficulty rising from a chair
-Walking on tiptoe (jinjit)
-10 yrs need help to walk
-12 years need a wheelchair
-Scoliosis
-Gower Signs

Fragile x Syndrome
-The slow progress in general
-Problems in speech and communication.
-Lack of concentration, autistic like
behavior.
-Likely to develop psychiatric problems
such as: anxiety disorder, hyperactivity
(ADHD), autism.
-Men who have likely affected FXS FXTAS
(Fragile X-associated tremor / ataxia
syndrome)
tremors, balance problems or
ataxia.
-Women's career may suffer FXPOI (Fragile
X-associated primary ovarian insufficiency)
infertility due to Fragile-X

Abberation of
Chromosome Structure

Prevention of Genetic
Abnormalities and
Disorders

The chance of having genetic disorders


and defects may be minimalized by
preventing marriages between closely
related families. This reduces the risk of
inheriting both lethal or mutated alleles
from both parent

Testing and diagnosing for disorders in


fetus during pregnancy. It is especially
done when both husband and wife have
history of genetic disorder.

Genetic Quality
Improvement

The modification of genetic quality


improvement on plants and animals
can be done In several ways, they are
selection, cross-breeding
(hybridization) and artificial
mutation.

Selection
Many varieties of plants and animals
that are useful for human are
obtained from selection. It is possible
because of existing variation within
the same species. Superior genes will
be inherited down to the offspring so
that the plants or animals will have
higher quality.

Cross-breeding (Hybridization)
is a mating between two individual
plants or animals from the same species
but having different genetic composition.
hybridization in cattle is aimed to
increase the quality of protein sources in
relatively short time. Hybridization of
cattle can be obtained by inbreeding,
pure breeding, cross breeding, and
upbreeding.

Inbreeding
Is the result of crossing between male
and female animals that belong to the
same family. The goal of inbreeding is
to produce pure breed offspring.

Pure Breeding
is the cross between male and female
animals of the same species. The goal
is to obtain homozygous offspring,
such as between a Balinese cow and
bull.

Cross Breeding
Is hybridization between male and
female animals of two different
species, races, or variants. The goal is
to obtain offspring with new
characteristics.

Upbreeding
Is the cross between male animal
with superior traits with female local
animal. The goal here is to improve
quality of local traits.

Artificial Mutation
is the intentional change in the
arrangement or number of genetic
material (DNA or chromosome) of
living organisms done by human.
Some mechanisms that can Induce
artificial mutation are radioactive
radiation or using chemical substance
such as colchicine.

Terima Kasih