Tay sachs disease (kromosom 15) disebut juga GM 2 gangliosidises
Accumulation uprocessed gangliosides (likoprtein erve in brain) 2. Hibridoma 00> fusi normal sel (eg. Sel B) dengan immortal cell line (myeloma) 3. Exon struktur gen yang mengkod eprotein 4. Intron regio yang sering ditemukn pada gen eukariot yang dibuang saaat splicing proccess 5. Non-coding DNA pita DNA di gen yang tidak membawa informasi produk gen yang dipakai sel 6. Gen regulation gen yang megatur sel untuk bereaksi cepat terhadap perubahan lingkungan 7. DNA A,G,T,C RNA A,G,U,C A+G = T+C 8. GC punya melting point lebih dari AT karena punya 3 ikatan hidrogen 9. Selama transkripsi, template stand dibaca dari arah 3-5 10. Reverse transcriptase: DNA diprduksi dari RNA 11. Tudung 5 : Bahan yang ditambahkan ke RNA selama proses modifikasi mRNA selama transkripsi Ekor Poli A : tidak ditranskripsikan menjadi protein, melindungi mRNA dari degradasi, ekspor dari nukleus 12. Transkripsi dan translasi di sel prokariotik terjadi terus menerus karena tidak ada membran nuclear 13. Mengapa protein yg diproduksi? Karena main molecule for metabolism 14. Primer product of translation is polipeptdes 15. Destinasi produk translasi tidak akan salah karena memiliki primer sequence 16. UV light : base excision repair (SER) DNA repair in mutation that caused by UV light Hydrolitic dan oxidatve deamination: nitrosamines Oxidatives kerusakan : G 8-oxo-G deoxyribose ribose T 5-formyl-T Alkilasi : putusin ikatan hidrogen 17. Point mutation pindah di satu titik ATTCGGTGA TAATCCACT 18. The natural form or condition of a gene is called wild type 19. Base excision repair: Replication stops before mutation and continues after it Gap repaired by DNA frgment from sister molecule Mutation is not repaired but is not replicated 20. Rate mutation humn (3000 nukleotida/min) is lower than acteria (30.000 nukleotida/min), because one generation in bactera only in a few minutes 21. S phase cycle cell replikasi DNA supaya sel bisa dibagi 2 22. Cdks (cyclin defendant kinases) are activated by fosforilation after binding to cyclins as players in control of the cell cycle In early part of G1 phase, type D cycline bind to CDK4 and CDK6 Cyclin helps the cell move from G1 to S CDK inhibitors include p21, p27, dan p57 23. P53 recognizes and stops the abnormal cell to grow/tell the cell kill itself 24. Necrosis form of cell death that caused by cellular metabolic colapse 25. Cystic fibrosis (kromosom 7), excessive secretion of mucus and lung infection 26. Phenylketonuria (PKU) (kromosom 12) 1:12000, genetic autosomal ressessive disorder 27. Sckle cell anemia (kromosom 11) 1:12 in US black 28. Deficiency of G6PD get hemolytic anemia if eat primaquin/sulpha medicine 29. Cell lysis main principle of extraction of DNA 30. Function EDT inhibiting protease 31. Function Detergent (PBS) break a cell membrane 32. Centrifugation separate DNA from other molecules after cell lysis 33. Alkohol (Et OH) recipitate the DNA 34. PCR is an amplification of DNA molecule in vitro (klo di i n vivo mirip replikasi) 35. Annealing attachment of dnpts (deoxynucleid triple phosphate; A,,C,G) in PCR 36. In electrophoresis of PCR (amplicon), the DNA will run from katoda (-) to anoda (+) 37. Visualization of amplicon is used UV light and Et Bromida 38. Gene therapy of insulin dependnt DM able to improve and stimulae beta cell pancreas function 39. Gene therapy of SCID stem cells produce T-cells indefinitely 40. RNA virus vector retrovirus and lent virus, DNA virus adenoviruses and adenoassociated 41. Benefit Liposome vector no potent antibody response 42. Retrovirus which consist of RnA (HIVE) can synthesis DNA from an RNA template as part of their life cycle 43. Property of ideal vector that lead to expression of the therapeutic protein, but not of viral protein is..... 44. Vector that often used to develop new vaccine is.... 45. Reources of embryonic germ cell such as.... 46. Not all genes are switched on all the time, because our bodies have many different types of cells 47. Profase kromatin DNA kondens jadi kromosom 48. G2 phase the cell grows and synthesize protein, prepaing to devide 49. Neoplastic transformation could occur by one of the following:.... 50. Centrifugation process in DNA extraction is to separate molecule based on rotein and non protein (pake chelex) 51. DNA extraction is separating RNA from the specimen by adding DNAase 52. Base substitution : transversion 53. Frame shift muattion might caused by: .... 54. DNA ligase joined the DNA segments tof orm DNA recombinant 55. A method to detect chromosome using a probe is called hybridization 56. Genome all the genetic material in an rganism 57. Allele 58. Taylor medicine treatment of patient is based on genetic characteristic 59. Lipoprotein is a structured protein 60. Proteins that helps DNA stay coiled is called histone