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INTRODUCTION TO GENETIC
Hachi-B Company
MAIN MENU
SCHEME
LEANING OBJECTIVES
MODULE
CREDIT
SCHEME
Analysis & Gene Therapy
Structure
Change
HEREDITY MENDEL LAWS
CHROMOSOME
CELL NUCLEUS
CELL
TISSUES
ORGAN
ORGAN SYSTEM
ORGANISM
GENETIC
MUTATION
GEN
FERTILIZATION
HEREDITARY DISEASE
EMBRYO
NIC D
EVELOPM
ENT
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.
5. Creating a useful drug in the form of protein
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 blood cells so that HIV will binds the drug and not attacking the white blood cells.
Structure and Changes in Chromosome
Structure and Changes in Chromosome
Mutation based on the occurrence:1. Spontaneous2. Induction
Mutation based on the cause:3. Physics4. Chemistry 5. Biological
Structure and Changes in ChromosomeChromosome mutation
Numeric Abnormalities:• Euploidi• Aneuploidi Structure Abnormalities:• Inversion • Deletion• Duplication• Translocation
Numeric Abnormalities
Disease in Aneuploidi:
1. Autosome Chromosome
2. Genosome Chromosome
Autosome Chromosome linkedPATAU SYNDROME
• 47 XY +13• Mental disability / deaf• Labio labio and palato
shicis• The weakness of the
brain, heart, and kidney• Due to nondisjunction.
Autosome Chromosome linkedEDWARD SYNDROME
• 47 XX +18• Mental Disorder• Double Kidney• Short ost sternum• 90% died under age 6
months
Autosome Chromosome linkedDOWN SYNDROME
• Looks stupid• In the palm of the hand
there is a horizontal line
Three Type:1. Primer2. Secondary3. Tertiary
Genosome Chromosome linkedTURNER SYNDROME
• 45 XO• Short, <120 cm• Fat and sterile• Abnormal gonads• Mental retardation
Genosome Chromosome linkedKLINEFELTER SYNDROME• 47 XXY• In women• Breast enlarge• Dry Hair• Arm and leg length• Male voice• Small testes• Normal external genitalia• Negative Spermatozoa• Due to nondisjunction
Fertilization Process
Fertilization Process
Fertilization Process
1. Penetration of the corona radiate2. The penetration of zona pellucida3. Unification of the oocyte and sperm cell
membrane
Embryonic Development
Zygote Morula Blastula
Gastrula Organogenesis
Embryonic Development
Heredity and Diseases
1. Autosomonal
2. 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• Hidrosefal
Heredity and Diseases
Sex Link:Y Chromosome:
Diseases caused by recessive Y chromosome:• Webbed toes • Hypertrichosis
Gene Therapy
Gene Therapy
1. IMMUNOTHERAPY
2. VIRO ONKOLITIK
3. TRANSFER GEN
END
ModuleMitra, 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 dengan terapi genetic. Bagaimana anda menjelaskan kecemasan mitra ?
ModuleMitra, 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 conducting genetic analysis and if necessary genetic therapy. How do you explain the Mitra’s anxiety?
Group 8 B
AdefriAmeliaAuliaDedi
GheetaLeo
RicheMiyaYessiYoga