Mutasi = Perubahan makhluk hidup menjadi Mutan

Berdasarkan bagian sel yang mengalami mutasi:
1. Mutasi gen: perubahan satu atau beberapa nukleotida.
Contoh: siklemia, albinisme, sindrom Lesch-Nyhann.
Macam:
a. Subtitusi (penggantian basa nitrogen)
? Transisi (purin diganti purin atau pirimidin diganti pirimidin)
? Transversi (purin diganti pirimidin atau sebaliknya)

Akibat terjadinya subtitusi:
? Mutasi diam (silent/ neutral mutation)
Kodon hasil mutasi mengkode asam amino yang sama
? Mutasi salah arti (missense mutation)
Kodon hasil mutasi mengkode asam amino yang berbeda
? Mutasi tanpa arti (nonsense mutation)
Mutasi yang dihasilkan kodon stop atau stop kodon, sehingga translasi berhenti

b. Pergeseran kerangka (frameshift)
? Insersi (penyisipan satu nukleotida)
? Delesi (penghapusan satu nukleotida)

2. Mutasi kromosom: perubahan struktur dan atau jumlah kromosom.
a. Perubahan struktur kromosom
? Jumlah gen dalam kromosom: delesi dan duplikasi.
– Delesi:
ABCDE.FGH ? ABCE.FGH
– Duplikasi:
ABCDE.FGH ? ABBCcDE.FGH
? Susunan gen dalam kromosom: inversi, translokasi, dan tranlokasi robertson.
– Inversi parasentrik:
ABCDE.FGH ? ADCBE.FGH
– Inversi perisentri:
ABCDE.FGH ? ABCGF.EDH

– Translokasi resiprokal:
ABCDE.FGH ABrsE.FGH
pqrst.xyz pqCDt.xyz
– Translokasi transposisi:
ABCDE.FGH ? ABCDEFG.H
– Translokasi Roberson:
Dua kromosom bertipe telosentrik, kemudian karena mutasi kedua kromosom bergabung pada bagian sentromernya

b. Perubahan jumlah kromosom
– Euploidi: perubahan seluruh genom
Contoh: monoploid (n), triploid (3n), tetraploid (4n), poliploid.
– Aneuploidi: perubahan satu atau beberapa set kromosom.
Contoh: nullisomi (2n-2), monosomi (2n-1), trisomi (2n+1), dan lain-lain.

Mutasi berdasarkan faktor penginduksi
a. Mutasi spontan (mutasi alamiah), yaitu mutasi yang terjadi tanpa diketahui sebabnya.
b. Mutasi yang diinduksi (mutasi buatan), yaitu mutasi sebagai hasil pendedahan organisme pada mutagen.

Sel yang mengalami mutasi
a. Mutasi somatis, yaitu mutasi yang terjadi pada sel tubuh (somatis) dan bersifat tidak diturunkan. Contoh: buah apel “Delicious” dan jeruk “Washington navel” merupakan hasil mutasi tunas cabang dan dikembangkan secara vegetatif.
b. Mutasi germinal, yaitu mutasi yang terjadi pada sel gamet dan bersifat diturunkan.

Penyebab mutasi
a. Bahan fisika: sinar x, sinar gamma, isotop radioaktif, sinar ultraviolet, suhu tinggi, dan partikel yang dapat mengion (netron, proton, partikel alfa, dan lain-lain).
b. Bahan kimia: DDT, pestisida, hidroksilamin, kolkisin, gas mustard, kafein, NaNO2, gas metan, digitonin, dan lain-lain.
c. Bahan biologi: virus.

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