MINGGU X

INTI SEL
KROMOSOM
 INTI SEL
(NUKLEUS)

Fungsi utama : kontrol terhadap aktivitas sel

- penentuan pola aktivitas

- pengarahan fungsi & kerja sel
Jumlah inti sel (nukleus) 1 atau polinuclear
Letak inti : bagian tengah atau dasar
Terdiri dari membran, anak inti, kromatin, cairan inti
 outer memelihara eksistensi
inner memgang bagian kromsom

PORUS NUCLEARIS
300 400 unit Angstrom
10 % luas permukaan membran
menghubungkan sitoplasma
dengan karioplasma
 NUCLEAR
PORE COMPLEX
FUNGSI : pengaturan aliran ion
dan molekul keluar masuk inti
sel

terdiri dari Pori (porus

nuclearis) + corong silindris
(annulus porus nuclearis)
 Nucleo-Cytoplasmic Transport

Ribosomal
Subunits

mRNA

Ribosomal
Proteins mRNA
Eukaryotic Nucleus Structure/Function
Import example - nucleoplasmin

Topic 4-1 8
 NUKLEOLUS
Ukuran membesar pada sel yang aktif
Bagian-bagian : daerah granular, fibriler, amorf
Jumlah > 1 & letak menempel pada membran inti
nukleolus berongga padat, cincin patologis
kandungan protein dan RNA >>
fungsi : sintesis protein utk ribosom, sintesis RNA
 KARIOPLASMA

Karyolimphe (cairan inti) substansi

interkromatin == larutan koloidal ~
protoplasma
Derajat kekentalan > sitoplasma
Hubungan karioplasma sitoplasma
melalui porus nuclearis, utk transport
keluar masuk inti sel - sitoplasma
 KROMATIN
Jenis kromatin (letak)
1. Peripheral Chromatin
2. Chromatin island
3. Nucleolus associated
Berdasarkan struktur :
1. heterokromatin
2. eukromatin

saat pembelahan -
KROMOSOM
 KROMOSOM
Tahap metafase (siklus sel):
Tampak seperti batang
berpasangan dalam inti sel

Berbagai bentuk dan ukuran dalam tiap sel,

namun selalu serupa dalam 1 spesies
Jumlah kromosom bervariasi, tergantung
spesies. Jumlah dalam tiap spesies, tetap.
Setiap kromosom mengandung DNA ,
penyusun gen. 1 kromosom ~ puluhan ribu gen
Organism No. chromosomes
Human 46
Chimpanzee 48
Dog 78
Horse 64
Chicken 78
Goldfish 94
Fruit fly 8
Mosquito 6
Nematode 11(m), 12(f)
Horsetail 216
Sequoia 22
Round worm 2
Organism No. chromosomes

Onion 16
Mold 16
Carrot 20
Tomato 24
Tobacco 48
Rice 24
Maize 20
Haploppus gracilis 4
Crepis capillaris 6
Bacterial Chromosome
Single, circular DNA molecule located in
the nucleoid region of cell
TELOMERE
S
T
R
U
K
T
U
R
Berdasarkan Letak SENTROMER
KARYOTYPING
 February 2001

Finished sequence
April 1953-April 2003
 Human Genome Sequencing
2/11/2001

From NCBI
 Chromosomes as seen at
metaphase during cell division
Telomere
Light bands
Replicate early in S phase
Less condensed chromatin
Transcriptionally active
Gene and GC rich

Short arm Centromere

p (petit) Joins sister chromatids

Essential for chromosome segregation

at cell division
100s of kilobases of repetitive DNA:
some non-specific, some chromosome
Long arm specific
q
Dark (G) bands
Replicate late
Telomere Contain condensed chromatin
AT rich
Visualizing Metaphase
Chromosomes (Banding)
Giemsa-, reverse- or centromere-stained
metaphase chromosomes

G-Bands R-Bands C-Bands

Chromosome Maps
Map shows
where all the
genes are
located on
each
chromosome
 SUSUNAN KROMOSOM
Organisme dengan susunan kromosom yang
lengkap EUPLOID
Organisme dgn variasi jumlah kromosom
individual (bukan jumlah total) -- ANEUPLOID

- Gonosom (penentuan jenis kelamin) 1 set kromosom

HAPLOID
- Autosom (bukan penentuan jenis kelamin) 2 set
kromosom : DIPLOID (2n)
3n TRIPLOID
4n TETRAPLOID
multipel n - POLIPLOID
 ANEUPLOID
Nullisomy - loss of one
homologous
chromosome
pair. (e.g., Oat )
Monosomy loss of a
single chromosome
(Maize).
Trisomy - one extra
chromosome. (Datura)
Tetrasomy - one extra
chromosome pair.
Classification of chromosomal anomalies
Numerical (usually due to de novo error in meiosis)
Aneuploidy - monosomy
- trisomy
Polyploidy - triploidy

Structural (may be due to de novo error in meiosis or

inherited)
Translocations - reciprocal
- Robertsonian (centric fusion)
Deletions
Duplications
Inversions

Different cell lines (occurs post-zygotically)

Mosaicism
Most frequent numerical anomalies
in liveborn

Autosomes
Down syndrome (trisomy 21: 47,XX,+21)
Edwards syndrome (trisomy 18: 47,XX,+18)
Patau syndrome (trisomy 13: 47,XX+13)

Sex chromosomes
Turner syndrome 45,X
Klinefelter syndrome 47,XXY

All chromosomes
Triploidy (69 chromosomes)
 Chromosome Structural Changes

There are 4 types of

chromosome structural
change all of them
associated with human
disorders
Detecting and Diagnosing
Human Disease Conditions
A characteristic karyotype indicates CML
Chronic Myelogenous Leukemia

Karyotype courtesy of
L. J. Beauregard,
Eastern Maine Medical Center
 A chromosomal translocation
triggers CML
Chronic Myelogenous Leukemia

healthy individual leukemic patient

Chr. 22

Chr. 9 9; 22 Translocation
The Philadelphia
chromosome
Detecting and Diagnosing
Human Disease Conditions
Genetic modification of
humans