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Priyambodo

Matakuliah Genetika (BIO612206) Jurusan Biologi Fakultas MIPA Universitas Lampung

• Mutasi kromosom

– Perubahan posisi kromosom

• Duplikasi,

• Delesi,

• Inversi,

• Translokasi

– Perubahan jumlah kromosom

• Euploidi,

• Aneuploidi

• Duplikasi

• Delesi

Cri-du-Chat Results

from Deletion of the

Terminus of

Chromosome 5

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)

• Inversi

• Inversi

• Translokasi

• Translokasi • Translokasi resiprokal

• Translokasi nonresiprokal (adisi-delesi)

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

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

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)

• Sindrom Turner = 45,X0

Trisomi • sindrom

Klinefelter = 47,XXY

Trisomi • sindrom down=47,+21

Trisomi • sindrom Patau =47,+13

Trisomi • sindrome edwadrs =47,+18