replikasi, transkipsi dan translasi
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Replikasi, Transkipsi dan TranslasiTRANSCRIPT
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Replikasi, Transkipsi dan Translasi
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Gen
• Merupakan fragmen DNA di dalam kromosom.
• Merupakan senyawa kimia yang mengandung informasi genetik.
• Bertanggung jawab atas sifat-sifat genetik.
• Unit instruksi untuk menghasilkan atau mempengaruhi herediter tertentu.
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Gen - cont...
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Struktur DNA & RNA
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Central Dogma
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Central Dogma – cont...
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Replikasi
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Transkipsi
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Transkipsi – cont...
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Translasi
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Translasi – cont...
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Mutasi Gen• Perubahan genetik• Berupa :
Mutasi Titik;• Mutasi Diam (Point Mutation) Tidak mempengaruhi• Missense Mutation : 1 aa terganti
– Acceptable MM– Partially MM– Unacceptable MM
• Mutasi nonsense terminasi premature / dini
Insersi dan Delesi penambahan / pengurangan asam nukleotida
Mutasi Frame Shift perubahab urutan nukleotida
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Missense Mutation
Contoh Unacceptable Missensi mutation
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Insertion & Deletion Mutation
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Frameshift Mutation
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Hemofilia• Gangguan produksi faktor pembekuan yang diturunkan secara x-linked
resesif.
• Kelainan sintesis salah satu faktor pembekuan;
– Hemofilia A terjadi kekurangan Faktor VIII (Antihemophilic factor)
– Hemofilia B terjadi kekurangan Faktor IX (Christmas factor).
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Hemofilia – cont...
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Kesimpulan• Gen merupakan senyawa kimia yang mengandung informasi
genetik.
• Protein terbentuk dari serangkai proses; replikasi, transkipsi, dan translasi
• Perubahan atau mutasi gen menyebabkan perubahan AA, penambahan, pengurangan dan perubahan urutan nukleotida.
• Hemofilia A kekurangan Hemofilia A terjadi kekurangan Faktor VIII (Antihemophilic factor)
• Hemofilia B terjadi kekurangan Faktor IX (Christmas factor).