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Page 1: Genetic Pattern

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 1/31

Page 2: 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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