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MUTASI. Agustina Setiawati , M.Sc., Apt. Mutasi Perubahan basa dalam sekuen DNA (Pd umumnya di dalam suatu gene). Perubahan ini termasuk : substitusi basa , adisi , penyusunan ulang dan delesi Mutan Organisme yang mengalami mutasi .

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mutasi

MUTASI

AgustinaSetiawati, M.Sc., Apt

mutasi mutan mutagen

Mutasi

  • Perubahanbasadalamsekuen DNA (Pd umumnya
  • didalamsuatu gene).
  • Perubahaninitermasuk :substitusibasa,
  • adisi, penyusunanulangdandelesi
  • Mutan
  • Organisme yang mengalamimutasi.
  • Mutasitersebuttentunyaterjadidalamgena yang
  • menyebabkanterjadinyaperbedaan yang nyata
  • denganbentuk normal (Wild-Type).
  • Mutagen
  • pengaruhfisikaatausenyawakimia yang menyebabkanmutasi.
Mutasi, mutan & mutagen
mutagens

A spontaneous mutation occurs once in 108 cells.

The mutation rate can be increased by exposing cells to mutagens, which are either chemicals or physical agents such as UV-irradiation.

Both chemicals and physical agents act by causing genetic damage that results in base changes in DNA

Mutagens
slide4

Mutagenesis

  • Prosesterjadinyasuatumutasi
  • Bisaterjadisecara:
    • Spontan (natural process) terjadi <1 in 108
    • E. coli misalnya saat kesalahan replikasi DNA
    • Diinduksi (mis. dengan mutagen(EMS atausinar UV).
mismatches saat dna replikasi

Mutan

Replikasi

5’-ATGGG-3’

3’-TACCC-5’

5’-ATTGG-3’

3’-TAACC-5’

5’-ATGGG-3’

3’-TAACC-5’

Normal

5’-ATTGG-3’

3’-TAACC-5’

Mismatches  saat DNA replikasi
perubahan struktur mutasi dna

Mutan

5’-ATXGG-3’

3’-TAGCC-5’

Kerusakan

nukleotida

5’-ATXGG-3’

3’-TAGCC-5’

5’-ATXGG-3’

3’-TAACC-5’

5’-ATCGG-3’

3’-TAGCC-5’

5’-ATTGG-3’

3’-TAACC-5’

Mutan

PerubahanstrukturMutasi DNA

Normal

tipe mutasi

A. Point mutation/Mutasi Titik

a. Substitusisatubasadengannukleotida yang lain

2 tipe:

Transisi – perubahanpurinekepurine (A to G, G to A)

ataupirimidinkepirimidin (C to T, T to C)

Transversi – perubahanpurinekepirimidinatausebaliknya, e.g. A to C/T, C to A/G

b. Insersiataudelesi

Penambahanataupengurangansatu base-pairs.

Tipemutasi
mutasi titik

Silent mutation

  • Perubahanbasatidakmeyebabkanperubahanpadakodon
  • 5’ ATGGGA GCT CTA TTA ACC TAA 3’
  • met gly ala leuleuthr stop
  • 5’ ATGGGA GCT CTA TTG ACC TAA 3’
  • met gly ala leuleuthr stop

Silent mutation

transisi

MUTASI TITIK
mutasi pada aras gena

Missense mutation

  • Perubahan basa  Perubahan kodon
  • 5’ ATGGGA GCT CTA TTA ACC TAA 3’
  • met gly ala leu leu thr stop
  • 5’ ATGGGA GCT CTA TTT ACC TAA 3’
  • met gly ala leu phe thr stop

Missense mutation

( transversi)

Mutasi pada aras gena
mutasi pada aras gena1

3. Nonsense mutation

Perubahan basa  menjadi stop kodon

5’ ATGGGA GCT CTA TTA ACC TAA 3’

met gly ala leu leu thr stop

5’ ATGGGA GCT CTA TGA ACC TAA 3’

met gly ala leu stop

Nonsense mutation

( & transversion)

Mutasi pada aras gena
mutasi pada aras gena2

4.Frameshift mutation

Hilangnya satu basa  perubahan pada pembacaan

5’ ATGGGA GCT CTA TTA ACC TAA 3’

met gly ala leu leu thr stop

5’ ATGGGG AGC TCT ATTAAC CTA A 3’

met gly ser ser ile asn leu

Frameshift mutation

Mutasi pada aras gena
tipe mutasi1

B. Inversi

Pemotongansebagian DNA dankemudiandisisipkanpadatempatygsamatetapipadaorientasiygberbeda

5’-ATCAG-3’

3’-TAGTC-5’

5’-ATTGG-3’

3’-TAACC-5’

Tipemutasi
reversion

This is the reverse processof mutation and involves a mutant regaining a wild-type phenotype, either through:

1. A back mutation (direct reverse of the mutation)

2. A reverse or suppressor mutation (not a direct reverse, but a mutation at a second site generally within the same gene which suppresses the effect of the first mutation). The mutant is described as a revertant.

A practical example of reversion is the Ames test which is used to test for carcinogens.

Reversion
what is reversion

WT, active

Mutate - to +

Mutant, inactive

+

+

-

+

Mutate + to -

+

-

What is reversion?

-

+

WT, active

Same site revertant

WT ?, active

different site revertant

depurinasi spontan

Kehilangan 300 purinperharipada pH 7, 37C

  • Padaselmamalia 10.000 purin/hari
  • Kecepatanmeningkatjikasuhunaikatau pH turun
  • Adanyasenyawaalkikasi (etiletenasulfonat, nitrogen mustrat) menaikkankecepatandepurinasi
Depurinasispontan
slide20

MUTAGEN FISIKA

UV radiation

mutagen kimiawi

BASA ANALOG

    • 5-Bromourasil dan 2-aminopurin bergabungpada DNA sepertiasamnukleatlainnya
    • BU = analog timin, yang berpasangandengan A tetapijugadapatberpasangandengan G
    • Terjadimutasidari A:T menjadi G:C
MUTAGEN KIMIAWI
slide26

SENYAWA INI BEREAKSI

DENGAN 7-N GUANOSIN

menghasilkan radikal

G:C MENJADI T:A

asam nitrit

MENGOKSIDASI ADENIN (A) MENJADI HIPOSANTIN

    • HIPOSANTIN INI AKAN BERPASANGAN DENGAN C
    • A:T MENJADI G:C
ASAM NITRIT

A:T G:C

xeroderma pigmentosum xp

Autosomalresesive

  • Mutasipadabeberapa gene yang terlibatdalam repair – pemotongandimerpirimidin
  • Pekaterhadapsinar UV –kankerkulit
  • CC 4.7
XerodermaPigmentosum (XP)
slide34

HUNTINGTON DISEASE

CAG : GLUTAMIN

NORMAL

PENDERITA 36 -82 KOPI

slide35

HUNTINGTON DISEASE

  • CAG : GLUTAMIN
  • PENDERITA 36 -82 KOPI

Fagile X syndrome: berpengaruh pada sistem regulasinya

slide36

Chromosome 1

Gene A

Chromosome 2

Gene B

Fusion Gene

Primary transcript

Fusion mRNA

Unique Properties

Altered Pattern of gene expression

Chimaeric

protein

Acts as an oncogene

Differentiation Blocked

65% of leukaemias are characterised

by particular somatically acquired chromosome translocations

Continued self-renewal

slide37

Bcr-abl = constitutively

active tyrosine kinase

(The protein product from this fusion

gene only found in ~70% of patients)

Chronic myeloid leukaemia (CML) is characterised by

the t(9;22)(q34;q11) reciprocal translocation