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8/11/2019 Genetic Pattern
http://slidepdf.com/reader/full/genetic-pattern 1/31
8/11/2019 Genetic Pattern
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Pattern of Heredity
Lantip Rujito
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biomolekuler
• Apa itu ilmu biomolekuler ?
“ Ilmu yang mempelajari tentang struktur danfungsi material molekul yang terdapat di dalam
sel” • Molekul : DNA, RNA, Protein, asam amino,
enzymes, atc
• Terkait : - struktur
- fungsi
- proses
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• All life depend on “Central Dogma” terms.
biomolekuler
RNA
Protein
translation
DNA transcriptions
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• DNA :
- merupakan “blue print” dari kehidupan organisme.
- tersimpan informasi genetik tentang bagaimana sel bekerja
•RNA- transport material informasi tersebut.
- penyedia template untuk produksi protein
• Protein
- membentuk seluruh komponen tubuh, enzim, hormon, etc,
sinyal untuk regulasi aktivitas gen.
biomolekuler
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biomolekuler
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A C G T A T C G C G T A
U G C A U A G C G C A U
Template DNA adalah komplementer
dengan sekuens mRNA
biomolekuler
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biomolekuler
Passarge, Genetics, 3rd edition © 2007 Thieme
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biomolekuler
Molecular biology of the cells, 2008
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biomolekuler
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biomolekuler
Karyotype
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• BAgaimana kita dapat material genetik ?
“ Every cells on the body which has nucleus
“
biomolekuler
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• GEN
- “ substansi pembawa informasi dari setiap
individu”
- “merupakan sekuens basa dengan tata
urutan unik”
- “ merupakan komponen struktur dan
fungsional dari unit herediter”
biomolekuler
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• Human Genome Project
- 30.000 sampai 50.000 gen
• Genetic susceptibility
“ An inherited increase in the risk ofdeveloping a disease. Also called geneticpredisposition “
• genetic marker of susceptibility :
“ A specific change in a person’s DNA thatmakes the person more likely to developcertain diseases such as chance”
biomolekuler
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GENETIC ENVIRONMENTAL
Duchenne
muscular dystrophy
Haemophilia
Osteogenesis imperfecta
Club foot
Pyloric stenosis
Dislocation of hip
Peptic ulcer
Diabetes
Tuberculosis
Phenylketonuria
Galactosaemia
Spina bifida
Ischaemic heart disease
Ankylosing spondylitis
Scurvy
Kontribusi genetik dan faktor lingkungan
pada proses penyakit
jarang
penyakit Genetik sederhana
unifaktorial
High recurrence rate
Sering
Genetics complex
Multifactorial
Low recurrence rate
Down
syndrome
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• Mendelian inheritance
a. Autosomal dominan
Mode of genetic disease
MONOGENIC
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b. Autosomal recessive
Mode of genetic disease
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• X chromosome inheretance
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• Non Mendelian
a. Mitocondral disease
b. Genetic imprintingc. Anticipation
d. Mosaicism
Mode of genetic disease
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• Kelainan melibatkan lebih dari satu perubahan
gen
• Genetic susceptibility
• Environment berpengaruh
• Multifactorial
Mode of genetic disease
Poligenic
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Spectrum of genetic
contribution to disease
Mostly
Genetic
Genes and
Environment
Mostly
Environment
Cysticfibrosis
DiabetesAsthma Chicken pox
Genetik di komunitas
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Deteksi Molekuler
• Polymerase Chain Reaction (PCR)
• MLPA
•
Southern blot• Restriction Fragment Length Pholymorphism (RFLP)
• FISH
• DNA blot
• Comparative genomic hybridization (CGH)
• Etc,etc
Genetik di komunitas
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• Pendekatan Penyakit < --- > Genetik
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PCR & RFLP
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Sequencing
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Micro array
Genetik di komunitas
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