pengantar gentika (light ver)

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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