Review genetika s1 b
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GENETIKAGENETIKA
Ery PurwantiEry Purwanti
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• Genetika DasarGenetika Dasar• Genetika ManusiaGenetika Manusia• BiologiBiologi
REFERENSIREFERENSI
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GREGOR JOHANN MENDELGREGOR JOHANN MENDEL
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Hukum Mendel
• Hukum Mendel I
The Law of Segregation of Allelic Genes(Hukum Pemisahan Gen yang Sealel)
• Hukum Mendel II
The Law of Independent assortment
of Genes(Hukum Pengelompokan Gen secara Bebas)
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Pewarisan Sifat Autosom (22 ps)
• Kromosom
Sex kromosom (1 ps)• Autosomal Dominal• Autosomal Resesif• Terangkai Kromosom X• Terangkai Kromosom Y
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AUTOSOMAL DOMINAN
1. Polidactyli
2. Anonycia
3. Thalassemia
4. Bisu Tuli : Terdapat gen komplementer
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1. Individu sakit paling tidak mempunyai salah satu orang tua yang juga sakit
Orang Tua : Aa X aa
Gamet : A a a a
Anak : Aa Aa aa aa
sakit sakit normal normal
2. Individu yang tidak sakit tidak akan mewariskan gen abnormal
3. Anak laki-laki dan perempuan mempunyai kesempatan yang sama untuk menderita penyakit
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AUTOSOMAL RESESIF1. Setiap penderita bersifat homozigot resesif
AA Aa aa
Normal penderita
2. Kedua orang tua penderita paling sedikit membawa satu alel untuk gen resesif (Aa)
Orang tua : Aa x Aa Gamet : A a A a
Anak : AA Aa Aa aa
normal sakit
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3. Individu dengan satu alel resesif tidak menunjukkan kelainan
4. Untuk kelainan resesif autosom yang jarang, kebanyakan penderita mempunyai orang tua normal
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5. Rasio (perbandingan) rata-rata antara anak normal dan anak sakit pada perkawinan dua individu heterozigot (Aa X Aa) adalah 3: 1
Orang tua : Aa x Aa
Gamet : A a A a
Anak : AA Aa Aa aa
normal sakit
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6. Frekuensi penyakit resesif autosom meningkat dengan adanya perkawinan keluarga (perkawinan sedarah/inbreeding)
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1. Albinisme1. Albinisme
Disebabkan karena tubuh seseorang tidak Disebabkan karena tubuh seseorang tidak mampu membentuk enzim yang diperlukanmampu membentuk enzim yang diperlukan untuk merubah untuk merubah asam amino tirosinasam amino tirosin menjadi menjadi beta 3, 4-dihidroksi beta 3, 4-dihidroksi phenylalaninphenylalanin pigmen melaninpigmen melanin Genotip penderita : aaGenotip penderita : aa NormalNormal : AA, Aa. : AA, Aa.
Kelainan Karena Gen Autosomal Ressesif
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2. Kretinisme Terganggunya pembentukan hormon tiroksin
dan triidotironin sehingga mengakibatkan per-tumbuhan kerdil.
Genotip penderita : cc Genotip normal : CC, Cc.
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3. Ichtyosis Congenita (**) Penyakit bawaan manusia, kondisi ketika bayi lahir dengan kulit tebal dan banyak luka berupa sobekan terutama di tempat- tempat lekukan. Ditentukan oleh gen resesif dimana dalam keadaan homozigot (ii) akan menyebabkan kematian (letal) sejak dalam kandungan.
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PEWARISAN TERANGKAI KELAMIN
1. Terangkai kromosom X
( X linked gene)
2. Terangkai kromosom Y
( Y linked gene)
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X – LINKED GENE/ TERANGKAI KROMOSOM X
1. Buta warna
2. Anodontia
3. Hemofilia
4. Sindroma Lesch – Nyhan
5. Hidrosefalus
R ES ESESIF
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Y-LINKED GENE/TERANGKAI KROMOSOM Y
1. Tumbuhnya kulit diantara jari-jari
Ditentukan oleh gen resesif wt
2. Pertumbuhan rambut yang panjang dan kaku di permukaan tubuh
Ditentukan oleh gen resesif hg
3. Hypertrichosis
Ditentukan oleh gen resesif h
Semua penderitanya adalah pria
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ALEL GANDA
• Pewarisan golongan darah
1. Sistem ABO (A, B, O, AB)
2. Sistem MN (M, N, MN)
3. Sistem Rhesus (Rh+, Rh-)
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Diagram Silsilah
• Polidactyli
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Golongan Darah ABO
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ABNORMALITAS KROMOSOM
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1. ABNORMALITAS KARENA JUMLAH KROMOSOM
a. Monosomi
b. Trisomi
2. ABNORMALITAS KARENA PERUBAHAN STRUKTUR KROMOSOM
a. Delesi Sindroma Cry du Cat (46, XX/XY,5p-)
b. Duplikasi
c. Inversi
d. Translokasi
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ABNORMALITAS KARENA PERUBAHAN JUMLAH KROMOSOM
1. Monosomi (2n-1) Sindroma Turner (45, XO)
2. Trisomi
a. Seks kromosom
- Sindroma Klinefelter (47, XXY)
- Sindroma Triple X (47, XXX)
- Pria XYY (47, XYY)
b. Autosom
- Sindroma Down 47, XX/XY, +21
- Sindroma Edward 47, XX/XY, +18
- Sindroma Pateu 47, XX/XY, +15
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TERJADINYA SINDROMA TURNER, SINDROMA TRIPLE X DAN SINDROMA
KLINEFELTER
end
46 46XY XX
ND
23 23 24 22X Y XX
Spermatozoa Ovum45 47 47
X XXX XXYSindroma Turner Sindroma Triple X Sindroma Klinefelter
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TERJADINYA PRIA XYY
46XY 46XX
23 X ND 23 Y
23 X 23 X 24YY 23 23 X
47 XYY Pria XYY
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TERJADINYA SINDROMA DOWN TRISOMI 21
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