Post on 12-Aug-2019
MUTASI Priyambodo, M.Sc.
staff.unila.ac.id/priyambodo
priyambodo@fmipa.unila.ac.id
Matakuliah Genetika (BIO612206) Jurusan Biologi Fakultas MIPA Universitas Lampung
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Mutasi titik
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Transisi
Transversi
Mutasi substitusi
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Mutasi substitusi
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Mutasi delesi
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Mutasi insersi
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Dampak mutasi titik
wild-type silent nonsense missense
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Mutasi pergeseran rangka
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Mutasi titk
• Silent
• Missense
• Nonsense
• Frameshift
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Mutasi Kromosom
Perubahan posisi kromosom
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Mutasi inversi
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Mutasi translokasi
• Translokasi resiprokal
• Translokasi nonresiprokal (adisi-delesi)
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A B D C E F H G
P Q S R T U W V
A B D C E F W V
P Q S R T U H G
A B D C E F H G
P Q S R T U W V
A B D C E F H G
P Q S R T U
W
V
Mutasi delesi
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Cri-du-Chat Results
from Deletion of the
Terminus of
Chromosome 5
Mutasi delesi
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Delesi dan
Duplikasi
Cri-du-chat syndrome (Del 5p)
Wolf-Hirschhorn syndrome (Del 4p16)
Wiiliams-Bauren syndrome (Del 7q11.23)
Rubinstein-Taybi syndrome (Del 16p13.3)
Velocardiofacial syndrome (Del 22q11)
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Mutasi kromosom
Perubahan jumlah kromosom
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Variasi pada euploid
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Tipe euploidi Jumlah genom Komplemen
kromosom
Diploid 2n AA BB CC
Triploid 3n AAA BBB CCC
Tetraploid 4n AAAA BBBB
CCCC
Pentaploid 5n AAAAA BBBBB
CCCCC
Poliploidisasi
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Berbagai kemungkinan variasi dalam aneuploidi
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Tipe aneuploid Formula Komplemen
Kromosom
Disomi (normal) 2n (ABC) (ABC)
Monosomi 2n – 1 (ABC) (AB)
Nullisomi 2n – 2 (AB) (AB)
Trisomi 2n + 1 (ABC) (ABC) (C)
Dobel Trisomi 2n + 1 + 1 (ABC) (ABC) (B) (C)
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Monosomi
• Sindrom Turner = 45,X0
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Trisomi
• sindrom Klinefelter = 47,XXY
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Trisomi
• sindrom down=47,+21
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Trisomi
• sindrom Patau =47,+13
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id
Trisomi
• sindrome edwadrs =47,+18
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Aneuploidi
staff.unila.ac.id/priyambodo priyambodo@fmipa.unila.ac.id