Kariotipe r
-
Upload
surayya-ardillah -
Category
Documents
-
view
293 -
download
7
description
Transcript of Kariotipe r
![Page 1: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/1.jpg)
KARIOTIPE
Genetika
![Page 2: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/2.jpg)
KARIOTIPE
gambaran yang mempresentasikan semua kromosom dari satu sel tunggal pada satu individu
digunakan untuk mengetahui terjadinya penyimpangan genetik pada tingkat kromosom
![Page 3: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/3.jpg)
STRUKTUR KROMOSOM
Kromosom dapat diamati pada fase metafase
Berdasarkan posisi sentromer: MetacentricSubmetacentricAcrocentricTelocentric
![Page 4: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/4.jpg)
Telocentric
![Page 5: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/5.jpg)
How To Read Chromosomes?
Untuk membaca sebuah set kromosom, pertama kita harus menggunakan 3 kunci utama untuk mengetahui persamaan dan perbedaannya:
Ukuran
Pola pita-pita
Posisi sentromer
![Page 6: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/6.jpg)
![Page 7: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/7.jpg)
Abnormalitas akibat perubahan jumlah kromosom
Euploidi Variasi yang menyangkut set kromosom yang lengkap
Tipe euploidi:
1. Monoploidi (n)
2. Diploidi (2n)
3. Poliploidi (3n,4n,8n,dsb)
![Page 8: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/8.jpg)
Abnormalitas akibat perubahan jumlah kromosom
Aneuploidi Individu aneuploidi memiliki kekurangan dan kelebihan
kromosom dibandingkan jumlah kromosom diploid dari individu tersebut
Tipe Aneuploidi:
1. Monosomi (2n-1)
2. Nullisomi (2n-2)
3. Polisomi (2n + 1, 2n+2, dsb)
![Page 9: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/9.jpg)
Normal human karyotype
![Page 10: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/10.jpg)
Normal Human Female Karyotype
![Page 11: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/11.jpg)
Normal Human male Karyotype
![Page 12: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/12.jpg)
Down’s Syndrome
Kelebihan sebuah autosom nomor 21 47 XY + 21 (laki-laki)/ 47 XX + 21 (perempuan) Ciri-ciri :
Tubuh pendek Lengan dan kaki kadang-kadang bengkok Kepala lebar, wajah membulat, mulut selalu
terbuka Jarak antar mata lebar IQ rendah, biasanya memiliki kelainan jantung
![Page 13: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/13.jpg)
Down’s Syndrome
![Page 14: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/14.jpg)
Turner Syndrome
45, XO atau 44 A + X Ciri-ciri :
Tubuh pendek leher pendek dan seperti “bersayap” Dada lebar Payudara tidak berkembang Mengalami keterbelakangan mental
![Page 15: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/15.jpg)
Turner Syndrome
![Page 16: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/16.jpg)
Klinefelter’s syndrome
47, XXY atau 44 A + XXY Ciri-ciri :
Payudara berkembang lengan dan kaki ekstrim panjang suara tinggi seperti wanita testis kecil mental terbelakang
![Page 17: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/17.jpg)
Klinefelter’s syndrome
![Page 18: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/18.jpg)
Cri-du-chat syndrome
46, XX 5p-/ 46, XY 5p- (delesi pada autosom no 5
Ciri-ciri:Kepala kecilMuka lebarKedua mata berjauhan letaknyaIQ rendahTangisan seperti suara kucing
![Page 19: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/19.jpg)
Cri-du-chat syndrome
![Page 20: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/20.jpg)
![Page 21: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/21.jpg)
ALAT & BAHAN
Gunting
Lem
Datasheet
![Page 22: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/22.jpg)
CARA KERJAGambar kromosom yang berukuran sama disatukan
Diberi nomor sesuai dengan ukurannya, dari terbesar hingga terkecil
Gambar kromosom tersebut digunting dan ditempel pada kertas yang tersedia
![Page 23: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/23.jpg)
XYY syndrome
![Page 24: Kariotipe r](https://reader035.fdocuments.net/reader035/viewer/2022082209/5695d11b1a28ab9b029528c4/html5/thumbnails/24.jpg)