genetic material i - gatotciptadi.lecture.ub.ac.id · spz + ovum sigot mitosis : 2,4, 32 sel dsr...
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GENETIC MATERIAL I:((Chromosome and Gen)
Basic Knowledges:Cells
Chromosome
Gen
Normal and Abnormal Chromosome/Gen
Kariotyping
Sex Chromosome
Interspecies Breeding/Mating::
Duck-Goose: TIKTOK
Domba -Kambing
GTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen
Tell me what I am ?????
1. By the beginning of the 20th century,
cytologists had observed :
chromosome number is constant in all
cells of a species, but varies widely
between species.
2. Sutton and Boveri (1902)
independently realized the parallel
between Mendelian inheritance and
chromosome transmission, and
proposed the chromosome theory
of inheritance: that Mendelian factors
(genes) are located on chromosomes.GTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen
30
60
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30
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30 60
sperm
mother
cell
ovum
mother
cell
sperms produced
by meiosis
fertilizationzygote
ova produced by meiosis
but only one develops to
maturity
ROLE: SPERM AND OOCYTES
GTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen
23 unpaired
chromosomes23 unpaired
chromosomes
23 unpaired
chromosomes23 unpaired
chromosomes
Fertilisation
Child
Father
23 pairs of
chromosomes
Sex cells
Meiosis
Mother
23 pairs of
chromosomes
23 pairs of
chromosomes
Genetic Material Trasmission: Meiosis and fertilisation
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CHROMOSOME = Genetic Materials?
Sifat fenotipik : G + L + Interaksi G+L
G : Saat Fertilisasi
SPZ + Ovum Sigot mitosis : 2,4, 32 sel dsr
(1/2 sel) (1/2 sel) (1 sel)
G : Pengaruh dari gen gen (Terdapat dalam kromosom(
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Theory of Inheritance: Chromosome
• Inherited traits are controlled by genes that reside in
chromosomes
• Chromosomes are transmitted by gametes to offspring
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Cytogenetics: Cells and chrom arrangement
• Study of chromosomes
• In early 19th century used
light microscopy
• Used to prepare
karyotypes: arrangement
of an organisms
chromosomes in
homologous pairs
• Today, use high-resolution
electron microscopy to see
the genes directlyGTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen
KROMOSOM SEBAGAI MATERI
GENETIK
Tubuh : ta Milyard Sel, berkembang
dari Singgle Sel
Organ: Fungsi tertentu, Jutaan Sel
(Spesifik)
Sel : 1 set diploid (Somatik Sel)
1 set haploid Krom seks (Germ
Cell)
Kromosom: lebih dari 1000 an Gen,
rangkaian DNA, non gen
Gen: lebih dari 1000 pasang basa DNAGTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen
KARIOTYPINGGambaran (typing) kromosom dalam inti sel
Pedoman:
kromosom berpasangan, homolog dan jumlahnya tertentu
masing-masing spesies, dan bentuknya juga spesifik
Klasifikasi Krom : metasentris, akrosentris,(submetasentris).
telosentris
Manfaat:
•Pewarisan sifat (normal-abnormal)
•Penentuan sex (jantan-betina)
Ukuran :
•diameter 0.2 – 2 um
•Panjang: 0,2 – 50 um
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Metodd of Kariotiping:•Kultur sel (darah limfosit, dll)
•Penambahan kolkisin: stop metafase
•Penambahan lar. Hipototik
•Fiksasi
•Preparasi objekglas
•Keringkan dan warnai
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CHROMOSOME IDENTIFICATION
Chromosomes can be identified by:
• Their size: Ukuran
• Their shape (the position of the
centromere) : Bentuk
NB Chromosomes are flexible
• Banding patterns produced by
specific stains (Giemsa) :Pita?pola
Chromosomes are analysed by
organising them into a
KARYOTYPE
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GTC-2012 Klh-4 Genetika (Materi
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Karyotyping
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RESULTS OF
KARYOTIOPING: Metode:
Disusun besar- kecil
Besar,bentuk, homolog
Urutan:
Besar—kecil
Besar dan kesamaan
bentuk
Letak/bentuk
acak
Jumlah dapat
dihitung
Manfaat 2 : Penentuan Sex
Manfaat 1:
Penentuan normal-abnormal
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Animals Chromosome
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Animals are selected based on structural &
numerical variations
Eg. Structural and Numerical Variations
Structural- Deletions, Insertions etc.
Numerical- Trisomy, Monosomy, Nullysomy
Disadvantage: low polymorphismGTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen
Chromosome Abnormality:
•Muncul dr kesalahan kromosom melakukan replikasi,
saat terjadinya fertilisasi/pembelahan
•Kontribusi terhadap performans reproduksi/kematian embrio
Euploidi: multiplikasi
bilangan dasarMoniploid: N kromosom
Triploid : 3N (N+2N)
Tertaploid : 4N, penggadaan
somatik krn, indukdsi kimia
Atau 2N+2N (tanpa reduksi)
Poliploid: pd tumbuhan gandum
(6N) arbei (8N)
Chromosome Number Variation
Aeuploidi: Tidak melibatkan
semua set krom/hanya bagian
krom.
Monosomik: 2N-1. mortalitas tingi :
memecah (N) =(N+1)
Trisomik: 2N+1, memecah (N+1) =(N)
Tetrasonik: (2N+2)
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STRUCTURAL CROMOSOME VARIATION
Translokasi: krom putus, lengket, bergabung kombinasi
krom non homolog
Resiprok: dua krom non homolog patah di dua segmen diikuti
dengan pertukaran
Fusi sentris: salah satu sentromer krom akrosentris fusi menghasilkan
kromosom metasentris, julah kromosom berkurang satu,
f enotip normal ( beda dengan monosomik,)
Inversi: tjd pemutusan, disisipka kembali terbalik: (1,2,3,4,5,6)
Menjadi (1,2,5,4,3,6) atau A.B.C.D.E.F.G -A.B.C.E.D.F.G
Delesi: kehilangan satu segmen krom ( A>B>C>D>E>F>G --- ABCFG
Duplikasi: Segmen-segmen tambahan, tidak merugukan, malahan
melengkapi dapat bermutasi dalam bentuk baru
GTC-2012 Klh-4 Genetika (Materi
GenetikI: Kromosom/Gen