genetic pattern

8/11/2019 Genetic Pattern

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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 2/31

Pattern of Heredity

Lantip Rujito

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 3/31

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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 4/31

• All life depend on “Central Dogma” terms. 

biomolekuler

RNA

Protein

translation

DNA transcriptions

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 5/31

• 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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 6/31

 biomolekuler

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 7/31

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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 8/31

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 9/31

 biomolekuler

Passarge, Genetics, 3rd edition © 2007 Thieme

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 10/31

 biomolekuler

Molecular biology of the cells, 2008

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 11/31

 biomolekuler

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 12/31

 biomolekuler

Karyotype

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 13/31

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 14/31

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 15/31

• BAgaimana kita dapat material genetik ?

“  Every cells on the body which has nucleus

“ 

 biomolekuler

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 16/31

• GEN

- “ substansi pembawa informasi dari setiap

individu” 

- “merupakan sekuens basa dengan tata

urutan unik” 

- “ merupakan komponen struktur dan

fungsional dari unit herediter”  

 biomolekuler

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 17/31

• 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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 18/31

  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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 19/31

• Mendelian inheritance

a. Autosomal dominan

Mode of genetic disease

MONOGENIC

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 20/31

b. Autosomal recessive

Mode of genetic disease

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 21/31

• X chromosome inheretance

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 22/31

• Non Mendelian

a. Mitocondral disease

b. Genetic imprintingc. Anticipation

d. Mosaicism

Mode of genetic disease

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 23/31

• Kelainan melibatkan lebih dari satu perubahan

gen

• Genetic susceptibility

• Environment berpengaruh

• Multifactorial

Mode of genetic disease

Poligenic

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 24/31

Spectrum of genetic

contribution to disease 

Mostly

Genetic

Genes and

Environment 

Mostly

Environment

Cysticfibrosis

DiabetesAsthma Chicken pox

Genetik di komunitas

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 25/31

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

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 26/31

• Pendekatan Penyakit < --- > Genetik

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 27/31

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 28/31

PCR & RFLP

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 29/31

Sequencing

8/11/2019 Genetic Pattern

http://slidepdf.com/reader/full/genetic-pattern 30/31

Micro array

Genetik di komunitas

8/11/2019 Genetic Pattern

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