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 Komplemen

kromosom

Diploid 2n AA BB CC

Triploid 3n AAA BBB CCC

Tetraploid 4n AAAA BBBB

CCCC

Pentaploid 5n AAAAA

BBBBB

CCCCC staff.unila.ac.id/priyambodo

Variation in Chromosome Number

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Diploid plant

A tetraploid plant

Treat with colchicine.

Allow to grow.

Take a cutting of the tetraploid portion.

Root the cutting in soil.

Tetraploid portion of plant (note the larger leaves)

Plant Geneticists Can Induce Polyploidization

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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. staff.unila.ac.id/priyambodo

Polyploids, like the octaploid on the left, often are larger than

their diploid progenitors (strawberry on right).

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tetraploid

diploid

Polyploid Formation in Animals Is Rare

One possible explanation is the

operation of the dosage compensation

mechanism for sex chromosomes. staff.unila.ac.id/priyambodo

Berbagai kemungkinan variasi dalam aneuploidi

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)

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Variation in Chromosome Number

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100% 150% 100%

Trisomy 2 individual

100%

1

100% 100%

Normal individual

2 3

100% 50% 100%

Monosomy 2 individual

Aneuploidy

Aneuploidy is almost always

harmful.

Imbalanced gene dosage is

believed to cause the negative

effects of aneupoidy.

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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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