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INTRODUCTION TO
GENETIC

Hachi-B Company
 MAIN MENU

SCHEME

LEANING OBJECTIVES

MODULE

CREDIT
 SCHEME
GENETIC

alysis & Gene Therapy GEN HEREDITY MENDEL LAWS

Structure CHROMOSOME FERTILIZATION

Change CELL NUCLEUS

EMBRYONIC DEVELOPMENT
CELL

MUTATION TISSUES HEREDITARY DISEASE

ORGAN

ORGAN SYSTEM

ORGANISM
 LEARNING OBJECTIVES
• Organized structure of human
body
• Roles of genetic in medicine
• Structure and change in
chromosome
• Fertilization Process
• Embryonic development
• Heredity and disease
• Gene Therapy
 Organized Structure of
Human Body
• Cell
• Tissues
• Organ
• Organ System
• Organisms
Role of Genetic in Medicine
1.Identifying genes which mutations is
responsible for genetic disease.
2.The discovery that lead to ways to
diagnose, treat, and prevent the
disease.
3.Using DNA testing or other
techniques to compare gene
expression in the body.
4.Gene therapy that fixes the genetic
abnormality in a single individual.
Role of Genetic in Medicine
6.The creation of injecting insulin for
diabetics.
7.The creation of a network
plasmanogen activator to dissolve
blood clot and reduce the risk of
cancer.
8.The use of nucleic acid antisena to
prevent the spread of cancer.
9.Mimic the receptor protein that
bound by HIV in entering white
Structure and Changes in
Chromosome
 Structure and Changes in
Chromosome
Mutation based on the occurrence:
1.Spontaneous
2.Induction
3.
Mutation based on the cause:

1.Physics
2.Chemistry
3.Biological
 Structure and Changes in
Chromosome
 Chromosome mutation
Numeric Abnormalities:

• Euploidi
• Aneuploidi
Structure Abnormalities:

• Inversion
• Deletion
• Duplication
• Translocation

 Numeric Abnormalities
Disease in Aneuploidi:


1.Autosome Chromosome
2.
3.Genosome Chromosome

Autosome Chromosome linked
 PATAU SYNDROME
•
• 47 XY +13
• Mental disability /
deaf
• Labio labio and
palato shicis
• The weakness of
the brain, heart,
and kidney
• Due to
Autosome Chromosome linked
 EDWARD SYNDROME
•
• 47 XX +18
• Mental Disorder
• Double Kidney
• Short ost sternum
• 90% died under
age 6 months
Autosome Chromosome linked
 DOWN SYNDROME


• Looks stupid
• In the palm of the
hand there is a
horizontal line
•
Three Type:


1.Primer
2.Secondary
3.Tertiary
Genosome Chromosome linked
 TURNER SYNDROME


• 45 XO
• Short, <120 cm
• Fat and sterile
• Abnormal gonads
• Mental retardation
Genosome Chromosome linked
 KLINEFELTER
SYNDROME
• 47 XXY
• In women
• Breast enlarge
• Dry Hair
• Arm and leg length
• Male voice
• Small testes
• Normal external
genitalia
• Negative
Fertilization Process
Fertilization Process
 Fertilization Process
1.Penetration of the corona radiate
2.The penetration of zona pellucida
3.Unification of the oocyte and sperm
cell membrane
 Embryonic Development

Zygote


 Morula
 Blastula
 Gastrula


Organogenesis
Embryonic Development
 Heredity and Diseases
1.
2.Autosomonal
3.
4.Sex Link
 Heredity and Diseases
Autosomonal dominant cause disease:


• Polidaktili
• PTC
• Dentinogenesis
• Cataract
• Black Hair
 Heredity and Diseases
Autosomonal recessive causes of


disease:


• Blue Eyes
• Cysticfibrosis
• Anemia crescent
• Thalassemia
• Albinism
 Heredity and Diseases
Sex Link:
X Chromosome:

Diseases caused by dominant X

chromosome:
• Rachitis
• Dental chocolate
Diseases caused by recessive X
chromosome:
• Blind color
• Hemofili
 Heredity and Diseases
Sex Link:
Y Chromosome:

Diseases caused by recessive Y

chromosome:
• Webbed toes
• Hypertrichosis
Gene Therapy
 Gene Therapy
1.IMMUNOTHERAPY
2.
3.VIRO ONKOLITIK
4.
5.TRANSFER GEN
6.
END
 Module
 Mitra, mahasiswa kedokteran tahun pertama semester
2 sedang belajar mata pelajaran yang sangat menarik
mengenai kehidupan manusia yaitu tentang peranan gen,
struktur dan perubahan kromosom yang mempengaruhi
keturunan manusia. Topic ini mengingatkan mitra waktu SMA
pernah belajar Biologi tentang hukum mendel.
 Pelajaran tersebut lebih menarik dan menyenangkan
bagi mitra karena sekarang kakak perempuannya sedang
hamil. Dengan demikian kehamilan kakaknya menambah
keinginan tahunya untuk mempelajari perkembangan
kehidupan manusia yang dimulai dari pembuahan sampai
lahir. Namun dia juga merasa cemas dan takut tentang
keadaan anak kakaknya nanti karena mitra mempunyai 2
orang kakak laki-laki yang mengalami buta warna.
 Mengingat kemungkinan yang akan terjadi pada anak
kakaknya, Mitra mencoba bertanya dan berdiskusi dengan
para pakar apakah anak kakaknya dapat dicegah tidak buta
warna dengan melakukan analisis genetic dan jika perlu
 Module
 Mitra, first-year of medical faculty student, semester 2,
is studying an interesting lessons about human life they are
about the roles of genes, chromosome structure, and changes
that affect the human lineage. This topic reminds Mitra that in
high school, she has studied Mendel Laws.


 These lessons are more interesting and fun for Mitra

because her sister is pregnant. Thus, her sister’s pregnancy
makes her desire to study the development of human life
which begins from conception until birth increased. But she
also felt anxious and scared about the situation of her sister’s
child later because both of her brothers experiencing color
blindness
.

Given the probability that will occur in her sister’s child,

Mitra tried to ask and discuss with the experts whether her
sister’s child can be prevented from color blindness by
Group 8 B

Adefri
Amelia
Aulia
Dedi
Gheeta
Leo
Riche
Miya
Yessi
Yoga