HUMAN HUMAN GENETICSGENETICSDR. KAMAJAYA, MSc.,SpAnd.

BAGIAN BIOLOGIFAKULTAS KEDOKTERAN U.S.U.

MEDANMEDAN.

G E N E T I C S

• DEFINISI. Il l j i = Ilmu yang mempelajari tentang sifat, karakter, penyakit atau cacat yang diturunkan dari orang-tua yang diturunkan dari orang tua kepada turunan nya, dan cara-cara penurunannya.

SIFAT, KARAKTER, PENYAKIT, DAN CACAT

HEREDITERHEREDITER.

• Onset ?• Onset ?• Tingkat abnormalitas genetik :

1. Chromosomal,2. Genome.3. Molecular.

HUMAN CHROMOSOME HUMAN CHROMOSOME. • Normal Human Chromosome :m m m m

= Somatic cells → 2n = 46 chromosome

22 pair of Autosome + XX sex chrom → ♀22 pair of Autosome + XX sex-chrom.→ ♀22 pair of Autosome + XY sex-chrom.→ ♂= Gametic cells → n = 23 chromosome22 Autosome + X / Y sex-chromosome.

Human chromosomes.Human chromosomes.• Abnormal human chromosomes :

A Ab l f h t ( l id ) A.Abnormal of chromosome set (aneuploidy) :1.4n (92 chrom) → Tetraploidy2 3 (69 h ) T i l id2.3n (69 chrom) → Triploidy3. n (23 chrom) → Haploidy (somatic-cell)

B.Abnormal number of chromosome :1. 2n + 2 (48 chrom) → Tetrasomy,2. 2n + 1 (47 chrom) → Trisomy3. 2n - 1 (45 chrom) → Monosomy

Human chromosomeC. Abnormal chromosome strukture.

1. Defisient chromosome.2. Duplication.3. Translocation.4 I i4. Inversion.5. Fragil chromosome.

GENOMEGENOME

A. Mendelian Inheritances.1 Monohybrid1. Monohybrid,2. Dihybrid,3. Trihybrid,4 Multihybrid4. Multihybrid.

GenomeGenome• Non-Mendelian Inheritances.

1 Inc mplit D min nc1. Incomplit Dominancy,2. Intermedier Inheritances,3 Epistasis3. Epistasis,4. Multiple gene Inheritances,5. Multiple alleles,p6. Sex-differences :

a. Sex Influenced Characters,b S Li it d Ch tb. Sex Limited Characters,C. Sex Linked Characters.

M l l G tiMolecular GeneticsB i k f DNA & RNA l l• Basic strukture of DNA & RNA molecules,

• DNA – Replication.= Reproductive and Syntesis replication,

• Central Dogma.• Codon• Operon theory (Jacob and Monod).

MENDELIAN INHERITANCES.MENDELIAN INHERITANCES.

• A. Monohybrid.♂P. ♂ Black X ♀ White F2.

BB bb ♂G1. B bF1. Bb

♀ B b

(Black)G2. B - b

B BBBlack

BbBlack

b BbBlack

BbWhite

F2.ratio = Black : White = 3 : 1.

B. Mendelian dihybrid

P. ♂ Black-short X ♀ White-long

BBSS bb

F2.

♂BS B bS bBBSS bbss

G1. BS bs

F1 BbSs

♀BS Bs bS bs

BS BBSS BBSs BbSS BbssF1. BbSs

(Black-short)

G2 BS – Bs – bS - bsBs BBSs BBss BbSs Bbss

G2. BS Bs bS bsbS BbSS BbSs bbSS bbSs

b BbS Bb bbS bbbs BbSs Bbss bbSs bbss

F2. ratio = Bl-sh : Bl-Lg : Wh-sh : Wh-lg = 1 : 3 : 3 : 1.

NON-MENDELIAN INHERITANCES.1. Incomplite dominancy & 2 Intermedier Inheritances F22. Intermedier Inheritances

P. ♂ Red X ♀ White

F2.

♂♀ R W♂ ♀

RR WWG1. R W

♀ R W

R RR RW

F1. RW(Orange)

W RW WW

F2. ratio = Red : Orange : White = 1 : 2 : 1.

N n M nd li n Inh it nNon-Mendelian Inheritances.

F2

3. Epistasis (Deaf-mutism).♂♀

DM Dm dM dmF2.

P. ♂ Normal X ♀ NormalDdMm DdMm

♀DM

DDMM

DDMm

DdMM

DdMm

G1. DM-Dm-dM-dm Dm

DDMm

DDmm

DdMm

Ddmm

dM

DdMM

DdMm

ddMM

ddMm

d d d dd dd

F2.ratio = Normal : Deaf-mute = 9 : 7.

dm

DdMm

Ddmm

ddMm

ddmm

Non Mendelian InheritancesNon-Mendelian Inheritances.4. Multiple gene Imheritance.

L b h d b k Lebih dari sepasang gen bekerjasama → satu fenotip.C t h Ti i b dContoh : a. Tinggi-badan,

b. Warna-kulitc H p t nsi h ditc. Hypertensi herediter.d. Diabetes-mellitus herediter.

Faktor lingkungan sangat berpengaruhFaktor lingkungan sangat berpengaruh→ Phenotype = Genotype + Environment.

Non-Mendelian InheritancesNon Mendelian Inheritances.5. Multiple alleles.

l ABO blood groupsa. ABO blood-groups.b. Rhesus-factor.

ABO blood-groupsP. ♂ A-Group het. X ♀ B-Group. Het.

IAIO IBIO

Phenotype GenotypeA IAIA-IAIO

IAIO IBIO

G1. IA – IO IB – IO

F1.A I I I IB IBIB-IBIO

AB IAIB

F1.

♂ IA IOAB IAIB

O IOIO

♂♀

I I

IB IAIB IBIOI I I I IIO IAIO IOIO

Multiple-alleles.Multiple alleles.B. Rhesus-factor.

• Gol.darah Rhesus : Rhesus positif dan Rhesus negatifRhesus negatif.

• Frekwensi : - Ras Kaukasia → Rh.+ = 75-78%R M l Rh 98 99%- Ras Mongol → Rh.+ = 98-99%

• Rhesus positif dominan thd Rhesus negatif.p g

Rhesus-factor.♂♂ Rh.pos.,het. X ♀ Rh.pos.het.

Rr RrG1. R – r R - rF1.

♂♂♀ R r

R RR Rrr Rr rr

F2-ratio :

Rhesus pos. : Rhesus neg. = 3 : 1

Antigen Rhesus : Wiener.Antigen Rhesus Wiener.Genotype Antigen rhesus

r -Ro RoR’ R’R” R’’R RR1 Ro – R’R2 Ro – R”Rx Ro – R’ – R”Ry R’ – R”

SEX-DETERMINATION.22 PS-A

+ XY

22 PS-A

+ XX

22A + X 22A + Y 22A + X 22A + X

22 P A22 PS-A

+ XY

22 PS-A

+ XX

Non Mendelian InheritancesNon-Mendelian Inheritances.

6 Inheritansi sehubungan dengan 6. Inheritansi sehubungan dengan perbedaan jenis kelamin (sex).

S I fl d Ch ta. Sex-Influenced Characters.b. Sex-Limited Characters.. L m ara r .c. Sex-Linked Characters.

6 S I fl d Ch t6a. Sex-Influenced Characters.Syn : sex sekunderSyn.: sex-sekunder.

• ♂ → - Perobahan suara- Pertumbuhan

b t j h

• Faktor /gen ada di kedua jenis kela-minrambut wajah.

- Postur tubuh & - dll.

min.• Berkembang diba-

wah pengaruh• ♀ → - Pertumbuhan

kelenjar mamma - Postur tubuh dll

wah pengaruh perbedaan kadar hormon reproduksi.Postur tubuh, dll.

6b. Sex-Limited Characters.6 . L m ara r .

F k / d d • Baldness.

• Faktor/gen ada pd kedua jenis sex.D i d

Genotype Sex & Phenotype.

• Dominan pd sex tertentu (♂/♀) dan recessive pd sex

ypBB ♂→ Baldness

♀→ Baldnessrecessive pd sex lainnya.

• Contoh : Baldness

♀→ Baldness

Bb ♂→ Baldness♀ Contoh : Baldness. ♀→ Normal

bb ♂→ Normal♀→ Normal

6c Sex-Linked Characters6c. Sex Linked Characters.

Homoloog portion between X and Y

or

g

Non-homoloog portion

= Homoloog portion diturunkan Incopletely Sex-Y Linked ≈ Autosomal Inheritances.

= Non-homoloog portion → Sex-LinkedX

Non homoloog portion → Sex Linked.

= Sex-Linked → X-Linked dan Y-Linked.

Y Linked syn Holandric= Y-Linked syn. Holandric.

X-Linked (sex-Linked) i di i Hrecessive diseases in Human.

1 H h l• 1. Haemophylia,• 2. Red-green Color-blindness,g• 3. DMP (Dystrophia Musculorum Progressiva)• 4 G-6-P D Deficiency4. G-6-P.D. Deficiency,• 5. Adontia.

Red-green Color-blindnessg• P. ♂ Normal X ♀ Normal Carrier

XY XXXY XXG. X - Y X - XFF. ♂

♀ X Y♀X XX

♀ NormalXY

♂ Normal♀ Normal ♂ Normal

X XX XY♀ Carrier ♂ Cb.

PEDIGREE.

1ST GENERATION

2ND GENERATION

3RD

GENERATION

4RD

GENERATIONP p sit s C i Propositus/proband

Carrier heterozygote

PROBABILITY

• Probabilitas turunan :i ( ) it (b) 1 1 b ½pria (a) : wanita (b) = 1 : 1 → a = b =½

• Pasangan suami-isteri dengan 5 anak :(a + b)5 = a5 +5 a4b +10 a3b2 +10 a2b3 + 5ab4 + b5( )

The endThe end.

Genetika Dasar.

Human Human Human Human Human Human CytogeneticsCytogenetics

Human Human CytogeneticsCytogeneticsCytogeneticsCytogeneticsCytogeneticsCytogenetics

Dr. Kamajaya,MSc,SpAnd.Dr. Kamajaya,MSc,SpAnd.Dept.Biologi FKDept.Biologi FK--USUUSU

M e d a n .M e d a n .

HUMAN CHROMOSOMES

46 Ch ( 2 )• 46 Chromosomes somatic ( 2n )= 22 pair of Autosomes p

+ XX Sex-chrom. ♀+ XY Sex-chrom ♂+ XY Sex-chrom. ♂

• 23 Chromosomes gametic ( n ).= 22 Autosomes + X / Y Sex-chrom.

SEX-CHROMATIN.A. Barr-body.

Sex-chromatin.B. Drum-stick.

FLUORESCENT-BODY.

LYON-HYPOTHESIS.1. Bila dlm sbh sel terdpt 2/lbh krom-X,

Krom X yg lebih piknotik→ Krom-X yg lebih → piknotik.2. Krom. Piknotik → inaktif secara genetik.3. Krom. Inaktif → mencegah dosis berganda.4. Jumlah Sex-chromatin → P = (jlh-X) -1.J m m (j )5. Krom-X yg piknotik → random.6 Pd anak sel krom X piknotik → klon6. Pd anak sel, krom-X piknotik → klon.

The chromosome.The chromosome.• Tipe-tipe krom.

p-arm

Centromere

q-arm 1 2 3

1. Metacentric chromosome.

2. Submetacentric chromosome.

3. Acrocentric chromosome.3. Acrocentric chromosome.

Chromosome-analysis. ll l• A. Cell-samples.1. Lymphocytes.y p y2. Bone-marrow cells.3 Fibroblast3. Fibroblast.4. Amniotic fibroblast.5. Throphoblast.

Chromosome analysisChromosome-analysis.B. Lymphocyte culture.y p y

1. Sampel : darah perifer.2 Media : HAM F 10 TC 199 dll2. Media : HAM F-10, TC-199, dll.3. Stimulasi Mitosis : PHA, Concovalin-A.4. Anti-kontaminasi bakteri dan jamur.5. Kultur di inkubator suhu = 37oC, 96% CO2 ,

& 5% O2.6 Lama kultur 67 jam6. Lama kultur 67 jam.

Chromosome analysis.yC. Harvest, preparation & staining.

1 Harvest : Washing Buffer1. Harvest : - Washing → Buffer,- Bulging → KCl 1%,- FixationFixation.

2. Preparation.3. Staining : a. Normal Giemsa,g

b. Banding staining :- Trypsin-Giemsa banding.

Fl t b di- Fluorescent-banding.

Human Karyotype.y yp

Human Karyogram.

Human Banding Chromosome.

Chromosome banding.= Band berbeda jlh dan loka si nya utk setiap kromosom.y p

= Band terbentuk dari Repetitive-DNA (A-T,A-T, A-T dst)A T dst).

= Band penting dlm pairing kro mosom pd profase.

=Band digunakan utk mengenali pasang an kromosom dan utk menjadi map kromosom.

Abnormal number of human chromosomes.

Chromosome non-dysjunction.A Sex chromosome non-dysjunctionA. Sex chromosome non dysjunction.

B. Autosome non-dysjunction

P. 22 ps A + XY

22 ps A

+ XX 1. Klinefelter syndrome

2 Triplo-X female syndrome22 A

+X22 A+ Y

22 A

+ XX

22 A

+ -

2. Triplo X female syndrome

3. No-name ; †

4. Turner syndrome.

22 ps A + XXY

22 ps A +XXX

22 ps A + -Y

22 ps A + X-

y

1. 2. 3. 4.

1 Klinefelter syndrome1. Klinefelter syndrome• 1. Jenis kelamin pria.• 2. Tinggi badan disproporsional.• 3. Retardasi mental + / - .• 4. Dapat menikah.• 5. Hypogonad-hypergonadotropin.5. Hypogonad hypergonadotropin.• 6. Gynecomasty.• 7. Sex-chromatin : (+) satu atau lebih.7. Sex chromatin : (+) satu atau lebih.• 8. Chromosome : 47;XXY; 48;XXYY;

49;XXYYY49;XXYYY

2 Triplo-X female syndrome2. Triplo-X female syndrome.

1 J i k l i it• 1. Jenis kelamin wanita.• 2. Inteligensi variatif.• 3. Umumnya menikah.3. Umumnya menikah.• 4. Haid sangat tidak teratur.• 5. Fertilitas subnormal.• 6. Sex-chromatin = 2 atau lebih.• 7. Chromosom : 47;XXX, 48;XXXX atau

49;XXXXX49;XXXXX

4. Turner syndrome. urn r yn r m• 1. Jenis kelamin dapat wanita atau pria.

T b k itTerbanyak wanita.• 2. Tubuh pendek, khas dg webbing-neck.• 3. Insuffisiency mental.• 4. Disgenesis gonad.• 5. Primary amenorrhoe• 6. Male Turner syndrome = Noonan syndrome.• 7. Sex-chromatin : negatif .• 8. Karyotip : 45;XO, 46;XX/XY;45;XO.

Turner syndrome

B. Autosomal non-disjunction

• 1. Trisomy-21 syndrome.1. Trisomy 21 syndrome.• 2. Trisomy-18 syndrome.3 T i 13 d• 3. Trisomy-13 syndrome.

• 4. Trisomy-8.• 5. dll.

Trisomy-21.• Synonim : Down-syndrome, Mongoloid-idiocy,

Mongolism.• Frekwensi : 1 dlm 600-800 kelahiran bayi hidup.• Tanda-tanda :

Tubuh pendek. Wajah : kecil, bulat dan rata. Hidung pesek. Telinga : letak rendah, kecil dan g ghipoplastis. Mata: epicanthic-fold, Brushfield spot. Tangan dan jari : pendek, simian crease, hi l i tl k li ki Ot t t t hi t ik dllhipoplasia tlg kelingking. Otot-otot hipotonik dll.

Trisomy-21.• Retardasi mental : IQ = 25-50 (imbecil).• Berat-badan lahir rendah sering disertai CHDBerat-badan lahir rendah, sering disertai CHD

(40%), atresia duodenum,annular pancreas, Hirschprung disease, anus imperforata, p g , p ,tracheoesophageal fistula, leukemi limfoblastik akut, dll.

• Sitogenetika : 1. Klasik : 47;XX/XY;21+.2. Translokasi : 46,XX/XY; D/G trans. /

G/G trans → 5%3. Mosaik : 46;XX/XY-47;XX/XY;21+ → 1 %.

Trisomy-21.Trisomy .

2.2. Trisomy-18.T d t d• Tanda-tanda :

= Kepala panjang, wajah : kecil, bulat, micronathiamicronathia,telinga letak rendah, cutis laxa, horse-shoe kidney,syndactyly, hipertelorisme,, ptosis, dll.

= Retardasi mental yang hebat,Sitogenetika : Trisomi kromosom no 18=Sitogenetika : Trisomi kromosom no.18.

Sindrom trisomy-18.

2.3. Trisomi-13.2.3. Trisomi 13.Tanda-tanda := Microcephaly Labiopalatoschizis abnormal= Microcephaly,Labiopalatoschizis, abnormal

struktur CNS (arrhinencephaly), anophthalmia/ micropthalmia, coloboma-iris, CHD cystic kidney Meckel diverticulumCHD, cystic kidney, Meckel diverticulum, cryptorchismus, uterus bicornis, dll.

= BB-lahir rendah, sering apnoe dan cyanosis, , g p y ,Frank-seizure (myoclonic attack) dan umumnya penderita meninggal hari-I atau sebulan.

= Sitogenetika : Trisomi kromosom no.13. Dapat pula bentuk translokasi, atau mosaik.

Sindrom trisomy-13.

2.4. Trisomy-8.T d t dTanda-tanda := Sulit didiagnose sebab tanda-tandanya

variatif, ,= Tubuh pendek, kepala relatif besar, bersudut

dan cenderung bagian depan menonjol, telinga lebar dan malformasi micronathia ptosislebar dan malformasi, micronathia, ptosis, strabismus, cryptorchismus, hypospadia, hydronephrosis, atrio-ventricular septal defect,IQ d h k d i 30 h bl= IQ rendah, kurang dari 30, speech problem, dll.

=Sitogenetik : sering dlm bentuk mosaik.Sitogenetik : sering dlm bentuk mosaik.

Trisomy-8.

CHROMOSOME-ABERRATION

DELESI

ab inversion

bbCHROMOSOME

DEFICIENT

ab a

b

a

Translocation homoloog

(duplication)

The effects ofThe effects ofchromosome aberration.

• 1. Fragil chromosome.• 2. Deficient chromosome.f• 3. Inversion chromosome.• 4 Translocation : 4. Translocation :

a. Homoloogb Heteroloogb. Heteroloog.

l Deletion syndrome.

• ( 4p- ) syndrome. ( 5 ) d C i d Ch t • ( 5p- ) syndrome = Cri-du-Chat

syndrome• (13q- ) syndrome.

1. ( 4p-) syndrome.= Mental retardasi, hypotonic.= BB-lahir rendah, bone-age, TB,

= BB dan pertumbuhan motoris kurang berkembang.

H p t l ism m t nti = Hypertelorisme, mata anti mongoloid, epicantic fold, ptosis, strabismusstrabismus.= Hypospadia, cryptorchismus.= CHD, dll.

( 4p- ) syndrome.

2. ( 5p- ) syndrome.2. Sindrom Le Cri-du-Chat (Sindrom-5p-).

= Hipoplasia larynx ⇒ tangisan anak kucingp p y g g= Retardasi mental (IQ<20).= Microcephaly, hypotonic, = Wajah bulat atau moon-face, antimongoloid, mulut lebar tak proportional, telinga lebar, CHD d b lit t li d = CHD dan abnormalitas metacarpalia dan

ibu-jari.

2. ( 5p- ) syndrome =. ( 5p ) syndrome Le Cri du Chat syndrome

3. ( 13q- ) syndrome.3 Si d (13 )• 3. Sindrom (13q-).= Fenotip bervariasi sesuai gen yang hilang.= Klasik : - Hypoplasia jari jempol, retardasi mental, abnormalitas otak, telinga lebar dan malformasi, h di t bifid dllhypospadia, scrotum bifida, dll.

( 13q- ) syndrome.

Mechanisms in chromosomal instability.

DNA t UV li htDNA exposure to UV-light.

DNA-repairDNA repair

Chromosome rearrangements

BIOMOLECULAR.R K R B K M KR M MSTRUKTUR BIOKIMIA KROMOSOM

ASAM NUKLEAT : DNA DAN RNAREPLIKASI : MITOTIK DAN SINTESASINTESADOGMA CENTRALTEORI OPERON JACOB & MONODTEORI OPERON JACOB & MONOD.

STRUKTUR BIOKIMIA KROMOSOM.

Kromosom terdiri dari :1. Komplex protein

1.1. Histon dan 1.2. Non-Histon2. Asam nukleat : DNA atau RNA.

Chromosome structure.

The chromosome.Kromosom terdiri dari untaian Nukleosom• Kromosom terdiri dari untaian Nukleosom.= Nukleosom berbentuk manik-manik,= Terdiri dari inti Histon dengan dua Terdiri dari inti Histon dengan dua

putaran DNA,= Ujung-ujung Histon (ikatan Nitrogenj g j g g

bermuatan positif) menonjol keluar berikatan dg gugusan Phosphate-DNA (b t tif)(bermuatan negatif),

= Dapat dicerna oleh DNA-ase atauEndonukleaseEndonuklease.

NUKLEOSOM.kl d d l h • Nukleosom dapat dicerna oleh DNA-

ase atau Endonuklease.Polynucleosome Tri- Di- Mononucleosome

10 nm ↑ ↑ ↑ 100 bp10 nm ↑ ↑ ↑ 100 bpDNA-ase/Endonuclease

Inti nucleosome Kromatosome45 bp 65 bp

1. PROTEIN COMPLEX OF THE CHROMOSOME.C O OSO .

• 1.1. Histon := 20 – 30 % protein kromatin.= Mengandung asam-amino : Lysine & Arginine Mengandung asam amino : Lysine & Arginine= 5 bentuk Histon : H1, H2 berbeda kandungan

Lysine dan ArginineLysine dan Arginine.= Bobot Histon dan DNA kromatin umumnya

proporsional kecuali pada sperma tanpa H1proporsional kecuali pada sperma, tanpa H1.

1 Protein complex of the 1. Protein complex of the chromosome.

1 2 NON HISTON• 1.2. NON-HISTON• Protein Non-Histon dalam sel terbanyak

adalah Non Histon mobilitas tinggi (HMG)adalah Non-Histon mobilitas tinggi (HMG) karena berberat molekul rendah .

• Kadar Non-Histon khas untuk setiap selKadar Non Histon khas untuk setiap sel jaringan dan berbeda untuk setiap jenis hewan.

• Diperkirakan fungsi Non-Histon sehubungan dengan expresi gen.

DNA and RNADNA and RNA

S k DNA d RNA• Struktur DNA dan RNA.Gula Basa nitrogen

= Deoxyribose + Adenine, Guanine, ⇒ Nucleoside.= Ribose Cytosine,Thymine,Uracyl

Gugusan Phosphate ⇒ NucleotideGugusan Phosphate ⇒ Nucleotide

Nucleotide + Nucleotide + Nucleotide + - - - ⇒ Asam Nukleat

( DNA dan RNA )

DNA and RNADNA RNADNA. (F.Crick & J.Watson)= Struktur Double helix

(Wilkins,Stokes & Wilson,1953)

RNA.= Struktur single helix.= Gula pentosa : Ribose(W s,Sto es & W so , 953)

= Gula pentosa : Deoxyribose.= Basa nitogen :

= Gula pentosa : Ribose.= Basa Nitrogen :

1. Purine : Adenine (A) &1. Purine : Adenine (A), dan

Guanione (G).2. Pyrimidine :

( )Guanine (G).

2. Pyrimidine : C t i (C)2. Pyrimidine :

Cytosine (C) &Thymine (T).

Cytosine (C), Uracyl (U)

Deoxyribonucleic acid Deoxyribonucleic acid (DNA)

D A T DP P

D = DeoxyriboseP P

D T A DP P

yP = PhosphateA = AdenineT = ThymineP P

D C G DP P

T = ThymineC = CytosineG = Guanine.

D G C DP P

Ribonucleic acid (RNA)R AR A

P R = RiboseR UP

R RiboseP = PhosphateA = Adenine

R CP

A AdenineU = UracylC = Cytosine

R GC CytosineG = Guanine.

CELL-CYCLE.

G1

MITOTIC SYNTHETIC PHASE

HEPHASE

G2

1 Reproductive replication1. Reproductive replication.

1 R l k R d k• 1. Replikasi Reproduksi.a. Terjadi pada fase mitosis.j pb. Pada keseluruhan panjang DNAc Di transkripsi oleh DNAc. Di transkripsi oleh DNAd. Transkripsi seluruh rantai DNA

B hi d b k e. Berahir dengan terbentuknya duplikasi DNA ⇒ Anak sel.

2 SYNTHESIS 2. SYNTHESIS REPLICATION

2 R lik i i• 2. Replikasi sintesa.= Terjadi pada fase Sintesa sel.= Hanya pada titik-titik replicon= Transkripsi DNA-RNA= Transkripsi hanya disatu sisi DNA.= Hasil ahir terbentuk m-RNA yang membawa informasi genetika ke ribosom.

1. Reproduction replication.p p

Replikasi 2 anak kromosomReplikasi 2 anak kromosom.

DNA – lama

DNA - baruDNA baru

2. Synthesis replication.Replicon point.

DNADNA

DNA-replication.

Transcription

Adenine (A)

Thymine (T)

Guanine (G)

U l (U)hn-RNA

Uracyl (U)

Cytosine (C)

RNA REPLICATIONExon-Intron & Capping

hn-=RNA

R E R ERecon Exon Recon Exon

Capping.

m-RNAA-A-A-A-ACH3-CH3-CH3-Exon-Exon-Exon-

CENTRAL-DOGMADNA-replication

DNA=RNA transcryption

m-RNA

Ribosomem-RNA=r-RNA transcryption.

Ribosomer-RNA=t-RNA translation

Enzyme.

U C A G

U UUU = PHENYLALANINE

UCUUCC = SERINE

UAU = TYROSINEUAC (TYR)

UGU = CYSTEINUGC (CYS)

UCPHENYLALANINE

UUC (PHE)UUA = LEUSINEUUG (LEU)

UCC = SERINEUCA (SER)UCG

UAC (TYR)UAA = stopUAG = stop

UGC (CYS)UGA= stopUGG = TRYPTOPHAN

CAG

(tryp)C CUU

CUC=isoleusineCUA (i l )

CCUCCC=prolinCCA ( )

CAU=histidineCAC (his)CAA l i

CGUCGC=argininCGA ( )

UC

CUA (isoleu)CUG

CCA (pro)CCG

CAA=glutaminCAG (glu)

CGA (arg)CGG

AG

A AUU ACU AAU AGU UAUC=isoleusineAUA (isoleu)AUG=Methionin/stop

ACC=threoninA (thre)CAACG

AACAAAAAG

AGCAGAAGG

UCAGG

G GUUGUCGUA

GCUGCC

GAUGAC

GGUGGC

UC

GUAGUG

GCAGCG

GAAGAG

GGAGGG

AG

Operon theory(Jacob & Monod)(Jacob & Monod)

R O S

Repressor m-RNA= r-RNA= t-RNA

Repression/Induction ENZYMEMetabolism

ENZYME