11042016 Mutasi

MUTASI
Priyambodo, M.Sc.
DNA Structure
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CONTOH SOAL
1. DNA sel kulit katak memiliki kandungan Basa
Nitrogen Adenin sebanyak 28%. Hitung berapa
persentase Guanin dalam seutas rantai DNA
sel kulit katak tersebut!
2. Isolasi RNA dari jaringan palisade Musa
paradisiaca yang dilakukan pada siang hari
menunjukkan adanya Guanin sebanyak 30%
dari total basa nitrogen. Hitung persentase
basa Nitrogen Timin yang bisa diisolasi!
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Jawaban
1. Diket: DNA sel kulit katak
Adenin= 28%
Ditanya: Guanin dalam seutas DNA
Jawab:
Adenin = Timin = 28%
Guanin + Sitosin = 100% - (2x28%)
= 44%
Guanin = 44% : 2 = 22%
DNA dalam seutas rantai = 22% : 2 = 11%
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Jawaban
2. Diket: Isolasi RNA Musa paradisiaca
Guanin 30%
Ditanya: Timin hasil isolasi
Jawab: 0%
Tidak ada timin di dalam RNA
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DNA to Chromosome
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Cell Cycle of Plant
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DNA
Replication
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Transisi
Transversi
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Point Mutation
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Chromosome Rearrangements
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The Bar phenotype in Drosophila melanogaster results from
an X-linked duplication
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Chromosomal Rearrangements
in Human Beings
• Cri du Chat Syndrome, 46,XX or XY,5p–
– The syndrome known as cri du chat
(French: cry of the cat) is so called
because of the catlike cry that about
half the affected infants make.
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Cri-du-Chat Results
from Deletion of the
Terminus of
Chromosome 5
The deletion is carried
in heterozygous form.
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 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)
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Perubahan
Jumlah
Kromosom
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Variasi pada euploid
Tipe euploidi
Jumlah genom
Diploid
2n
Komplemen
kromosom
AA BB CC
Triploid
3n
AAA BBB CCC
Tetraploid
4n
Pentaploid
5n
AAAA BBBB
CCCC
AAAAA
BBBBB
CCCCC
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Variation in Chromosome Number
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Plant Geneticists Can Induce Polyploidization
Diploid plant
Treat with colchicine.
Allow to grow.
Tetraploid portion of plant (note the larger
leaves)
Take a cutting of the tetraploid portion.
Root the cutting in soil.
A tetraploid plant
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JUMLAH KROMOSOM BAWANG
PUTIH KULTIVAR SANGGA
sel-sel diploid
sel diploid dan
autotetraploid
sel autotetraploid
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Polyploid Formation is a Major Force in Plant Evolution
Roughly 35% of flowering plant species arose through polyploidization.
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Polyploids, like the octaploid on the left, often are larger than
their diploid progenitors (strawberry on right).
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Polyploid Formation in
Animals Is Rare
diploid
One possible explanation is the
operation of the dosage compensation
mechanism for sex chromosomes.
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tetraploid
Berbagai kemungkinan variasi dalam
aneuploidi
Tipe aneuploid
Disomi (normal)
Formula
2n
Komplemen
Kromosom
(ABC) (ABC)
Monosomi
2n – 1
(ABC) (AB)
Nullisomi
2n – 2
(AB) (AB)
Trisomi
2n + 1
(ABC) (ABC) (C)
Dobel Trisomi
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2n + 1 + 1
(ABC) (ABC) (B) (C)
Variation in Chromosome Number
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Aneuploidy
1
2
3
100% 100% 100%
Normal individual
Aneuploidy is almost always
harmful.
100% 150% 100%
Trisomy 2 individual
Imbalanced gene dosage is
believed to cause the negative
effects of aneupoidy.
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100% 50% 100%
Monosomy 2 individual
Human
Aneuploid
Conditions
Aneuploidy for all
chromosomes
occurs frequently.
The reason only
trisomy 13, 18 or 21
is seen in live births
is because other
autosomal
aneuploides are
embryonic lethal
conditions.
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Monosomi pd manusia (Sindrom Turner =
45,X0)
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Trisomi (sindrom Klinefelter = 47,XXY)
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Trisomi-21 (sindrome down=47,+21)
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Trisomi-13 (sindrom Patau)
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Trisomi -18 (sindrome edwadrs)
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Aneuploidi
pada
manusia
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