SEJARAH GENETIKA

 GREGOR JOHAN MENDEL (1866 = AUSTRIA) = PRINSIP

HEREDITAS
 DE. VRIES (BELANDA, CORRENS (JERMAN), VON
TSCHEMARK (AUSTRALIA), 1900 = MENEMUKAN KEMBALI
PRINSIP HEREDITAS MENDEL
 W. S. SUTTON DAN C. E. Mc. LUNG (1902)
 FAKTOR HEREDITAS TERLETAK DALAM KROMOSOM
 JUMLAH FAKTOR HEREDITAS LEBIH BANYAK DARI JUMLAH
KROMOSOM.
 T. H. MORGAN (1911)
 “ FAKTOR HEREDITAS (GEN) TERLETAK DALAM
KROMOSOM DALAM URUTAN LINEAR “
 G C

A T
T A

1 nm

G C
C G 3.4 nm
A T

C G

T A

T A

A T

T A

G C
A T 0.34 nm
(a) Key features of DNA structure (c) Space-filling model
• MONOHIBRID
– MEMPELAJARI HEREDITAS MURNI SIFAT
TUNGGAL

– PENGAMATAN SECARA KUANTITATIF

– DESAIN PERSILANGAN DGN GALUR MURNI,

SEHINGGA MEMBERIKAN PERBANDINGAN YANG
JELAS.
P Generation
x
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)

All plants had

purple flowers

F2 Generation
X
 Phenotype Genotype

Purple PP 1
(homozygous)

Pp
3 Purple (heterozygous)

2
Pp
(heterozygous)
Purple

pp
1 White 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

• PADA GENERASI F.1 PASTI TERDAPAT SEPASANG PENENTU
WAR-NA MERAH ( PATERNAL) DAN WARNA KUNING
(MATERNAL)

• PENENTU WARNA MERAH BERPASANGAN DENGAN

PENENTU WARNA KUNING, TETAPI TIDAK MELEBUR DALAM
INDIVIDU F.2.

• GENERASI F.1 BERWARNA MERAH SEMUA KARENA PENENTU

WARNA MERAH ( DOMINAN = AKTIF) MENUTUPI PENENTU
WARNA KUNING (RESESIF=PASSIF).

• DENGAN DEMIKIAN SEMUA INDIVIDU PARENTAL, F.1, F.2

DST. PASTI MENGANDUNG SEPASANG FAKTOR PENENTU
SIFAT.
 Yellow-round Green-wrinkled
seeds (YYRR) R r seeds (yyrr)
Y y
Parental Generation Y R y r
Persilangan dua ercis galur murni
Meiosis
Gametes Fertilization y r
R Y

R
All F1 plants produce
R
y yellow-round seeds (YyRr)
F1 Generation y
r r
Y Y
Meiosis
LAW OF SEGREGATION = M.1 R r Two equally r R LAW OF INDEPENDENT ASSORTMENT = M.2
probable
Y y arrangements Y y
of chromosomes 1 Alleles at both loci segregate
in anaphase I, yielding four
1 The R and r alleles segregate at metaphase I types of daughter cells
R r r R depending on the chromosome
at anaphase I, yielding arrangement at metaphase I.
two types of daughter y Anaphase I Compare the arrangement of
Y Y y the R and r alleles in the cells
cells for this locus. on the left and right

R r r R
Each gamete
2 gets one long Metaphase II 2 Each gamete gets
y y y a long and a short
chromosome Y
chromosome in
with either the
one of four allele
R or r allele.
Y Y combinations.
Y Y Y Y R y y
Gametes R r r
R r r R

1/4 YR 1/4 yr 1/4 yr 1/4 yR

F2 Generation Fertilization among the F1 plants
3 Fertilization results in the
3 Fertilization recombines the 9:3:3:1 phenotypic ratio in
R and r alleles at random.
9 :3 :3 :1 the F2 generation.
• PADA SETIAP GENERASI PARENTAL (P), F.1; F.2 DST, TERDAPAT SEPASANG FAKTOR
PENENTU SIFAT.

• SEPASANG FAKTOR PENENTU SIFAT TERSEBUT DIWARISI SATU DARI MATERNAL

DAN SATU DARI PATERNAL.

• KEDUA FAKTOR PENENTU SIFAT (GEN) TIDAK MELEBUR DALAM INDIVIDU

KETURUNANNYA (BERPASANGAN DALAM KROMOSOM HOMOLOG)

• FAKTOR PENENTU SIFAT YANG MENUTUP PENGARUH PENENTU SIFAT LAINNYA

DISEBUT DOMINAN (AKTIF), DAN YANG TERTUTUPI PENGARUHNYA DISEBUT
RESESIF (PASSIF).

• HUKUM SEGREGASI MENDEL

“DALAM PEMBENTUKAN GAMET ANGGOTA DARI PASANGAN FAKTOR PENENTU
SIFAT TERPISAH SATU SAMA LAIN, SEHINGGA SETIAP GAMET HANYA
MENGANDUNG 1 FAKTOR PENENTU”

• HUKUM ASOSRTASI BEBAS MENDEL

“DISTRIBUSI TIAP PASANG GEN KE DALAM GAMET TIDAK BERGANTUNG PADA
DISTRIBUSI PASANGAN GEN LAIN”
 TINGKAH LAKU KROMOSON TERJADI DALAM PROSES MITOSIS, MEIOSIS DAN
FERTILISASI.
 DI DALAM SETIAP KROMOSOM TERDAPAT SEJUMLAH GEN
 SETIAP GEN TERLETAK PADA SUATU TEMPAT DI DALAM KROMOSOM YANG
DISEBUT LOKUS
 SETIAP SEL MEMPUNYAI 2 DARI SETIAP JENIS GEN (ALEL)
 KROMOSOM TERPISAH DALAM MEIOSIS ( n = HAPLOID) ATAU GAMETOGENESIS,
DAN BERSATU KEMBALI DALAM PROSES FERTILISASI ( 2n = DIPLOID).
 SEPASANG KROMOSOM HOMOLOG MEMPUNYAI GEN SAMA YANG TERLETAK
DALAM URUTAN YANG SAMA.
 SETIAP SIFAT / KARAKTER DITENTUKAN OLEH SEPASANG GEN ALEL ATAU LEBIH
YANG BERLOKUS PADA SEPASANG KROMOSOM HOMOLOG.
 HOMOSIGOT : DUA GEN YANG SAMA, MENGONTROL SATU SIFAT DAN KARAKTER
YANG SAMA
 HERETOSIGOT : DUA GEN YANG SAMA, MENGONTROL SATU SIFAT TETAPI
KARAKTER YANG TIDAK SAMA.
MITOSIS MEIOSIS
• Sel induk (2n = diploid) • Sel induk (2n = diploid)
= sel anakan (2n = = sel anakan (n =
diploid) haploid)
• Genotip anak = genotip • Genotip anak ≠ genotip
induk induk
• Pada sel somit dan • Pada sel kelamin saja
bakal sel kelamin
 G2 OF INTERPHASE PROPHASE PROMETAPHASE
Centrosomes Aster Fragments
Chromatin Kinetochore
(with centriole pairs) Early mitotic Centromere of nuclear
(duplicated) spindle envelope Nonkinetochore
microtubules

Nucleolus Nuclear Plasma Chromosome, consisting Kinetochore

envelope membrane of two sister chromatids microtubule
 METAPHASE ANAPHASE TELOPHASE AND CYTOKINESIS
Metaphase
plate Cleavage
Nucleolus
furrow
forming

Nuclear
Daughter envelope
Spindle Centrosome at chromosomes
one spindle pole forming
Nucleus Chromatine Chromosome
Nucleolus condensing

Metaphase. The
1 Prophase. 2 Prometaphase. 3 4 Anaphase. The 5 Telophase. Daughter
The chromatin We now see discrete spindle is complete, chromatids of each nuclei are forming.
is condensing. chromosomes; each and the chromosomes, chromosome have Meanwhile, cytokinesis
The nucleolus is consists of two attached to microtubules separated, and the has started: The cell
beginning to identical sister at their kinetochores, daughter chromosomes plate, which will
disappear. chromatids. Later are all at the metaphase are moving to the ends divided the cytoplasm
Although not in prometaphase, the plate. of cell as their in two, is growing
yet visible nuclear envelop will kinetochore toward the perimeter
in the micrograph, fragment. microtubles shorten. of the parent cell.
the mitotic spindle is
staring to from.
Figure 12.10
 INTERPHASE MEIOSIS I: Separates homologous chromosomes

PROPHASE I METAPHASE I ANAPHASE I

Centrosomes Centromere Sister chromatids

(with centriole pairs) (with kinetochore) remain attached
Chiasmata Metaphase
Sister
chromatids plate
Spindle

Nuclear
envelope Microtubule Homologous
Tetrad attached to chromosomes
Chromatin
kinetochore separate
Chromosomes duplicate Pairs of homologous
Tetrads line up chromosomes split up
Homologous chromosomes
(red and blue) pair and exchange
segments; 2n = 6 in this example
 MEIOSIS II: Separates sister chromatids

TELOPHASE I AND PROPHASE II METAPHASE II ANAPHASE II TELOPHASE II AND

CYTOKINESIS CYTOKINESIS

Cleavage
furrow Sister chromatids Haploid daughter cells
separate forming

Two haploid cells

form; chromosomes During another round of cell division, the sister chromatids finally separate;
are still double four haploid daughter cells result, containing single chromosomes
 MITOSIS MEIOSIS
Chiasma (site of
Parent cell
crossing over)
MEIOSIS I
(before chromosome replication)

Prophase I
Prophase
Chromosome Chromosome
replication replication Tetrad formed by
Duplicated chromosome 2n = 6 synapsis of homologous
(two sister chromatids) chromosomes

Chromosomes Tetrads
Metaphase I
Metaphase positioned at the positioned at the
metaphase plate metaphase plate

Anaphase Sister chromatids Homologues Anaphase I

Telophase separate during separate
Telophase I
anaphase during
anaphase I; Haploid
sister Daughter n=3
chromatids cells of
remain together meiosis I
2n 2n
Daughter cells MEIOSIS II
of mitosis
n n n n

Daughter cells of meiosis II

Sister chromatids separate during anaphase II
 G1 checkpoint

Control
system S

G1

G2
M

M checkpoint

G2 checkpoint