mutasi - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-mutasi.pdf · delesi...
TRANSCRIPT
![Page 1: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/1.jpg)
MUTASI Priyambodo, M.Sc.
staff.unila.ac.id/priyambodo
Matakuliah Genetika (BIO612206) Jurusan Biologi Fakultas MIPA Universitas Lampung
![Page 2: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/2.jpg)
staff.unila.ac.id/priyambodo [email protected]
![Page 8: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/8.jpg)
Dampak mutasi titik
wild-type silent nonsense missense
staff.unila.ac.id/priyambodo [email protected]
![Page 10: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/10.jpg)
Mutasi titk
• Silent
• Missense
• Nonsense
• Frameshift
staff.unila.ac.id/priyambodo [email protected]
![Page 13: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/13.jpg)
Mutasi translokasi
• Translokasi resiprokal
• Translokasi nonresiprokal (adisi-delesi)
staff.unila.ac.id/priyambodo [email protected]
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
![Page 14: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/14.jpg)
Mutasi delesi
staff.unila.ac.id/priyambodo [email protected]
Cri-du-Chat Results
from Deletion of the
Terminus of
Chromosome 5
![Page 16: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/16.jpg)
Delesi dan
Duplikasi
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)
staff.unila.ac.id/priyambodo [email protected]
![Page 18: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/18.jpg)
Variasi pada euploid
staff.unila.ac.id/priyambodo [email protected]
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
![Page 20: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/20.jpg)
Berbagai kemungkinan variasi dalam aneuploidi
staff.unila.ac.id/priyambodo [email protected]
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)
![Page 21: MUTASI - staff.unila.ac.idstaff.unila.ac.id/priyambodo/files/2016/05/10052016-Mutasi.pdf · Delesi dan Duplikasi Cri-du-chat syndrome (Del 5p) Wolf-Hirschhorn syndrome (Del 4p16)](https://reader030.vdokumen.com/reader030/viewer/2022040108/5d50e25888c993b8218b5c02/html5/thumbnails/21.jpg)
staff.unila.ac.id/priyambodo [email protected]