GROUP 27 D

MEMBERS:
1) Arfan Gifari (1210313058)
2) Cory Dwi Farmawi (1210312107)
3) Elisda Yusra (1210319001)
4) Fikri Fulkiadli (1210312109)
5) Mutia Rahman (1210313057)
6) Nurlia Lestari (1210312108)
7) Putri Indah Permata (1210312110)
8) Silvania Maisya Fitri (1210313061)
9) Teda Faadhila (1210312106)
10) Vanny Asrytuti (1210312100)

GENETIC
INTRODUCTION
 5th Scenario

Selly , 26 years old, has young pregnant, very happy with her first
pregnant. But, she is so worried about the birth of the child
because her neighbor has down syndrome child. Why does it
happen ? Whereas the parents looks normal. She also ever
see the children who suffers from polydactily. She is so afraid
if it happens to her child.

Selly is confused because the oldest son of selly’s sister suffers

from the colour blind disease. Selly asking inside, could the
disease be heal by genetic ? Selly thought how complex the
human phenomenon and why does the disorder appear ?

How do you explain the growth and development of human ?

 Determining the Terminology
 Down syndrome
Down syndrome is a genetic condition in which a
person has 47 chromosomes instead of the usual 46.
 Polydachtily
Polydactyly is a genetic condition which manifests in
the form of extra fingers and toes.
 Daltonism
The term “daltonism” is sometimes used to describe
red-green colorblindness,
 Genetic
a discipline of biology, is the science of heredity and
variation in living organisms.
PROBLEM IDENTIFICATION
 What are the type of cell?
 How are the structures and function of cell?
 How is cell communication process?
 How is transpor system of the cell?
 How can normal cell change into abnormal?
 What is caused of damaged cell?
 How is intermedia metabolism?
SCHEME
LEARNING OBJECTIVE
Students are able to explain:
1. The genetic component
2. About fertilization
3. About embriologi
4. Sex chromatine inspection
5. Organization of the body

6. Heredity’s disease
7. Prevention of genetic disease
LO1
Genetic Component
1. Gene
A gene is a molecular unit of heredity of a living organism. It is a name
given to some stretches of DNA and RNA that code for a polypeptide
or for an RNA chain that has a function in the organism.

2. Chromosomes
The total complement of genes in an organism or cell is known as its
genome, which may be stored on one or more chromosomes; the region
of the chromosome at which a particular gene is located is called its
locus. A chromosome consists of a single, very long DNA helix on which
thousands of genes are encoded. Consist of :
a. Histones protein
b. Nonhistones protein
c. Telomer
d. Kromomer
e. Sentromer
LO2
Fertilization
is the process by male and female gametes
fuse,
occurs in the ampullary region of the
uterine tube.
 Spermatozoa are not able to fertilize the
oocyte immediately, but must do:

1. Capacitation
is adaption process by spermatozoa in the
uterine tube, last about 7 hours.
During this time, a glyprotein coat and
seminal plasma proteins are removed from
the plasma membrane that overlies the
acrosomal region of the spermatozoa.
2. Acrosome reaction
occurs after binding to the zona
pellucida .

this reaction culminates in the

release of enzymes needed to
penetrate the zona pellucida,
including acrosin and trypsin-like
subtances.
The Phases of fertilization
1st Phases
Penetration of The Corona Radiata

 Spermatozoa can pass freely corona cells,

after doing Capacitation.
2nd Phases
Penetration of the Zona Pellucida

 The zona is a glycoprotein shell surrounding

the egg that facilities and maintains sperm
binding and induces the acrosome reaction.
 When sperm penetrate the zona,
permeability of the zona pellucida will
change, like prevent sperm penetration.
 Only one sperm seems to be able to
penetrate oocyte.
3rd Phases
Fusion of the oocyte and Sperm Cell
Membranes
 Aa soon as the spermatozoa has entered the
oocyte, the egg respond in 3 ways:
a. cortical and zona reactions
prevent other sperm binding and
penetration.
b. Resumption of the second meiotic division
it chromosomes arrange female pronucleus
c. metabolic activitation of the egg.
 Spermatozoa moves forward until it lies close
to the female pronucleus.

Its nuleus becomes swollen, forms the

male pronucleus

The tail’s sperm degenerates

Male and female pronucleus is fusing

Zygote
Results of fertilization

1. Restoration of the diploid number of

chromosomes.
2. Determination of the sex of the new
individual.
3. Initiation of cleavege.
LO3
Embryology
 Cleavage

Once the zygote has reach the two-cell stage, it

undergoes a series of mitotic divisions. These cell
are known as blastomers.
Approxiamately 3 days after ferthilization, cell of the
compacted embryo divide again to form a 16 cells
morula. Inner cell of the morulla constitute :
a. Inner cell mass  gives rise to issue of the
embryo proper
b. Outer cell mass  forms the trophoblast :
placenta
 Blastocyst formation

The intercellular spaces become confluent

and finally, a single cavity, the blastocele,
forms.
By the end of the first week of
development, the human zygote has pass
throught the morula and blastocyst stages
and has begun implantation in the uterine
mucuse..
 Uterus at time of implantation

The uterus at timeof implantation is in the

secretory phase and the blastocyst implants
in the endometrium along the anterior or
posterior wall.
LO4
LO5
Structural Organization of the Body
Chemical Level

 Atoms
The smallest unit of matter

 Molecule
Combine two or more atoms such as : a
protein, a vitamin
Cells

 Joining of large molecules in specific ways

 The basic units of structure and function in
organism
 Specialiced structural and function unit called
organelles permit all living cells to share some
common functions
 The structure of cells vary widely
Tissues
 Organization of similar cells that perform
specialized function
 There are 4 type tissues in human body
- Epithelial Tissue
- Connective Tissue
- Muscle Tissue
- Nervous Tissue
Organ
 Contain two or more tissue types that
work together to perform specific, complex
functions
The organ system
There are 11 organs system, each composed
of interrelated organs that work together to
perform specific functions
LO6
THE HEREDITY AND GENE
DISORDER
Use the mendel law of heredity.
For example :
The hemolifia woman patient married with the normal
man. The scheme of hederity will be like this
parental genotype xhxh >< xy
f1 xhx
xhy
so, from the scheme, we can see that the opportunity
of the children suffer from hemofilia is 50 : 50
50 % -> female carrier
50 % -> male hemofili
GENE DISORDER

Some disorder caused by gene and crhomosome

mutation.
1. The structure chromosome disorder
Cause by :
- deletion : ex : cry du chat
-microdeletion : ex : angelman syndrome, prader
willy syndrome, miller-dieker syndrome,
velokardiofasial syndrome
- fragile site : fragile x syndrome,
2. The number chromosome disorder
caused by : non disjunction
- euploidi : all structure ofchromosome
change. Ex : triploid, tetraploidi
-aneuploid : some chromosome change.
Ex : monosomi (45), trisomi (47)
-down syndrome, 18 trisomi, 13
trisomi, klinefelter syndrome, turner
syndrome, xxx syndrome
LO7
7th LO
HEREDITY DISEASE
Genetic factorial disease :
 Autosomal dominan : polydactily, phenilketourinaria,
dentinogenesis, retina aplasia, katarak, black hair
 Autosomal resesif : albino,
 Gonosome related to x chromosome :
-dominan : rachitis which resist with d vitamin brown
teeth,
-resesif : red green colour blind , anonychia, hemofili,
hidrocephali, deficiency of 6 phospate dehidrogenase
enzyme
 Gonosome related to y chromosome :
- webb toes
-histrix gravior
-hypertrichosis
Multifactorial genetic disease :
- Diabetic melitus
- Hypertension
- Ulkus peptikum
- -schizopernia
- Cancer
Environment factorial : infection
LO8
Prevention of Genetic Disease
 Screening cerum test
a. Blood test  mother
b. USG screening test  mother
c. Newborn screening  baby

 Gene therapy (first conceptualized in

1972)  use bactery or viruses as vector
(adenovirus vector)
 Genetic testing
a. Determine their chances of passing any
genetic diseases to their child
b. Uses the amniotic fluid for genetic
deficiencies such as Down Syndrome

 Gen blocking therapy  inhibit gene

activity with double stranded RNA

 Stem cell therapy