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TRANSFORMATION GENETICS. BBC1-K9 dr. Kamajaya, MSc,SpAnd. Dept. Biologi FK USU, Medan

TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

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Page 1: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

TRANSFORMATION GENETICS.BBC1-K9

dr. Kamajaya, MSc,SpAnd.

Dept. Biologi FK USU, Medan

Page 2: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

GENETIKA• DEFINISI.

Ilmu yang mempelajari tentang sifat,

karakter, penyakit atau cacat yang

di turunkan dari orang-tua (parental

/ induk) kepada turunan nya, serta

cara- cara penurunannya.

Page 3: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

Transmission Genetics.• PENURUNAN SIFAT-SIFAT HEREDITER :

1. Mendelian Genetics : sifat-sifat herediter yang diturunkan menuruti Hukum Mendel.

2. Non-Mendelian Genetics : sifat-sifat herediter yang diturunkan tidak menuruti Hukum Mendel.

3. Hereditary Sex-linked : sifat-sifat yang dibawakan oleh faktor-faktor yang berada di kromosom-sex.

Page 4: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

Mendel’s Experimental Design.

• Gregor Johann Mendel, penemu dasar Genetika modern. Thn. 1854, mulai melakukan serangkaian experimen persilangan pada sejenis kacang (Pisum sativum) ⇒ Fundamental principles of genetics.

• Pisum sativum memenuhi syarat sebagai sample experimen genetika sebab :1. Variasi banyak : Warna bunga, biji, warna dan bentuk

buah, tinggi batang dan posisi letak bunga.

2. Siklus hidup pendek.

3. Dapat dilakukan cross fertilization.

4. Jumlah turunan banyak.

5. Syarat hidup dan biaya perawatan murah.

Page 5: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

Mendel hypothesis and law.• Mendel Hypothesis :

– Sepasang sifat dibawakan oleh sepasang faktor.

– Pada pasangan faktor, satu faktor dominan thd alel nya.

– Pada gamet, anggota pasangan faktor terpisah atas dua gamet yang berbeda.

• Thn 1865, Mendel melaporkan hasil experimen nya.

• Mendel’s first law : Bila sepasang individu diper-silangkan dengan sepasang sifat alternatif, pd turunan pertama akan muncul sifat yg dominan, dan pada turunan kedua, sifat dominan dan recesif diturunkan tiga berbanding satu.

• Mendel’s second law : Bila dipersilangkan sepa-sang individu dengan dua pasang sifat alternatif atau lebih, maka pasangan-pasangan sifat di-turunkan tdk tergantung satu dengan lainnya (free assortment).

Page 6: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

1. MENDELIAN GENETICS.

Mendelian Inheritances.

1. Monohybrid,

2. Dihybrid,

3. Trihybrid,

4. Multihybrid.

Page 7: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

2. NON-MENDELIAN GENETICS.

• Non-Mendelian Inheritances.a. Incomplete dominancies,

b. Intermedier Inheritances,

c. Epistasis,

d. Multiple gene Inheritances,

e. Multiple alleles,

f. Sex-differences :

i. Sex Influenced Characters,

ii. Sex Limited Characters,

Page 8: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

3. HEREDITARY SEX-LINKED

• Hereditary Sex-linked.

– Faktor pembawa sifat herediter terletak di kromosom-sex (kromosom-X atau kromosom-Y).

– Kromosom-X dan kromosom-Y mempunyai bagian dimana faktor-faktor berpasangan, bagian ini disebut “bagian homoloog” kromosom-X dan Y.

– Sebagian besar kromosom-X dan-Y faktor-faktornya tidak berpasangan, bagian ini disebut “bagian non-homoloog”.

Page 9: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

1. MENDELIAN INHERITANCES.

• a. Monohybrid.

P. ♂ Black X ♀ White F2.

BB bb

G1. B b

F1. Bb

(Black)

G2. B - b

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

♀ B b

B BB

Black

Bb

Black

b Bb

Black

bb

White

Page 10: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

b. Mendelian dihybrid

P. ♂ Black-short X ♀ White-long

BBSS bbss

G1. BS bs

F1. BbSs

(Black-short)

G2. BS – Bs – bS - bs

♀ BS Bs bS bs

BS BBSS BBSs BbSS BbSs

Bs BBSs BBss BbSs Bbss

bS BbSS BbSs bbSS bbSs

bs BbSs Bbss bbSs bbss

F2. ratio = Bl-Sh : Bl-Lg : Wh-Sh : Wh-Lg = 9 : 3 : 3 : 1.

F2.

Page 11: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

2. NON-MENDELIAN INHERITANCES.

a. Incomplete dominancies &

b. Intermedier Inheritances

P. ♂ Red X ♀ White

RR WW

G1. R W

F1. RW

(Orange)

F2.

♀ R W

R RR RW

W RW WW

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

Page 12: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

2. Non-Mendelian Inheritances.

c. Epistasis

(Deaf-mutism).

P. ♂ Normal X ♀ Normal

DdMm DdMm

G1. DM-Dm-dM-dm

♀DM Dm dM dm

D

M

DD

MM

DD

Mm

Dd

MM

Dd

Mm

D

m

DD

Mm

DD

mm

Dd

Mm

Dd

mm

d

M

Dd

MM

Dd

Mm

dd

MM

dd

Mm

d

m

Dd

Mm

Dd

mm

dd

Mm

dd

mm

F2.

F2.ratio = Normal : Deaf-mute =

9 : 7.

Page 13: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

2. Non-Mendelian Inheritances.

d. Multiple gene Imheritances.

Lebih dari sepasang gen bekerjasama

→ satu fenotip.

Contoh :

a. Tinggi-badan,

b. Warna-kulit

c. Hypertensi herediter.

d. Diabetes-mellitus herediter.

Faktor lingkungan sangat berpengaruh → Phenotype = Genotype + Environment.

Page 14: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

2. Non-Mendelian Inheritances.

e. Multiple alleles.

i. ABO blood-groups.

ii. Rhesus-factor.

Phenotype Genotype

A IAIA-IAIO

B IBIB-IBIO

AB IAIB

O IOIO

i. ABO blood-groups

P. ♂ A-Group het. X ♀ B-Group. Het.

IAIO IBIO

G1. IA – IO IB – IO

F1.

IA IO

IB IAIB IBIO

IO IAIO IOIO

Page 15: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

ii. Rhesus-factor.

♂ Rh.pos.,het. X ♀ Rh.pos.het.

Rr Rr

G1. R – r R - r

F1.♂

♀ R r

R RR Rr

r Rr rr

F1-ratio :

Rhesus pos. : Rhesus neg. = 3 : 1

Page 16: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

ii. Rhesus-factor.

• Gol.darah Rhesus : Rhesus positif dan

Rhesus negatif.

• Frekwensi :

– - Ras Kaukasia → Rh.+ = 85-87%

– - Ras Mongol → Rh.+ = 98-99%

• Rhesus positif dominan thd Rhesus

negatif.

Page 17: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

Antigen Rhesus : Wiener.Genotype Antigen rhesus

r -

Ro Ro

R’ R’

R” R’’

R1 Ro – R’

R2 Ro – R”

Rx Ro – R’ – R”

Ry R’ – R”

Page 18: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

SEX-DETERMINATION.

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

22 PS-A

+ XY

22 PS-A

+ XX

22 PS-A

+ XY

22 PS-A

+ XX

Page 19: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

2. Non-Mendelian Inheritances.

f. Inheritansi sehubungan dengan

perbedaan jenis kelamin (sex).

i. Sex-Influenced Characters.

ii. Sex-Limited Characters.

Page 20: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

ii. Sex-Limited Characters.

• Faktor/gen ada pd

kedua jenis sex.

• Dominan pd sex

tertentu (♂/♀) dan

recessive pd sex

lainnya.

• Contoh : Baldness.

• Baldness.Genotype Sex & Phenotype.

BB ♂→ Baldness

♀→ Baldness

Bb ♂→ Baldness

♀→ Normal

bb ♂→ Normal

♀→ Normal

Page 21: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

3. Sex-Linked Characters.

X

Y

or

Homoloog portion between X and Y

Non-homoloog portion

= Homoloog portion diturunkan Incopletely Sex-

linked Autosomal Inheritances.

= Non-homoloog portion → Sex-Linked.

= Sex-Linked → X-Linked dan Y-Linked.

= Y-Linked syn. Holandric.

Page 22: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

3. X-Linked (sex-Linked)

recessive diseases in Human.

• 1. Haemophylia,

• 2. Red-green Color-blindness,

• 3. DMP (Dystrophia Musculorum

Progressiva)

• 4. G-6-P.D. Deficiency,

• 5. Adontia.

Page 23: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar

Red-green Color-blindness

• P. ♂ Normal X ♀ Normal Carrier

XY XX

G. X - Y X - X

F. ♂

♀X Y

X XX

♀ Normal XY

♂ NormalX XX

♀ CarrierXY

♂ Cb.

Page 24: TRANSFORMATION GENETICS. BBC1-K9 - ocw.usu.ac.idocw.usu.ac.id/course/download/111-Basic-Biology-of-Clasic/bbc...Mendel’s Experimental Design. • Gregor Johann Mendel, penemu dasar