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G6PD deficiency

G6PD deficiency. Glucose-6-phosphate dehydrogenase ( G6PD ) ( 葡萄糖 -6- 磷酸脫氫酶 ) is an enzyme produced in immature red blood cells. G6PD deficiency. It protects the red blood cells from being oxidized and destroyed. G6PD deficiency.

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G6PD deficiency

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  1. G6PD deficiency Glucose-6-phosphate dehydrogenase (G6PD) (葡萄糖-6-磷酸脫氫酶) is an enzyme produced in immature red blood cells.

  2. G6PD deficiency It protects the red blood cells from being oxidized and destroyed.

  3. G6PD deficiency About 5% of the HK population have G6PD deficiency (葡萄糖-6-磷酸脫氫酶缺乏症／蠶豆症).

  4. G6PD deficiency If they are exposed to substances with oxidizing properties, their red blood cells will break down rapidly.

  5. How does a mutation in the gene for G6PD cause the enzyme deficiency

  6. The chemical Basis of Inheritance

  7. Chromatin / Chromosomes

  8. Organism estimated size estimated gene number average gene density chromosome # Homo sapiens (human) 2900 million bases ~30,000 1 gene per 100,000 bases 46 Rattus norvegicus (rat) 2,750 million bases ~30,000 1 gene per 100,000 bases 42 Mus musculus (mouse) 2500 million bases ~30,000 1 gene per 100,000 bases 40 Drosophila melanogaster 180 million bases 13,600 1 gene per 9,000 bases 8 (fruit fly) Arabidopsis thaliana 125 million bases 25,500 1 gene per 4000 bases 5 (plant) Zea mays (corn) 5000 million bases ~25,000 1 gene per 200,000 bases 10 Oryza sativa (rice) 565 ~25,000 1 gene per 23000 bases 12 Caenorhabditis elegans 97 million bases 19,100 1 gene per 5000 bases 6 (roundworm) Saccharomyces cerevisiae 12 million bases 6300 1 gene per 2000 bases 16 (yeast) Escherichia coli 4.7 million bases 3200 1 gene per 1400 bases 1 (bacteria) H. influenzae (bacteria) 1.8 million bases 1700 1 gene per 1000 bases 1

  9. Chromosome = Protein + DNA

  10. Indirect Evidence of DNA as genetic material

  11. Bacteria transforming factor- Griffiths 1928

  12. Watson and Click Model 1953

  13. DNA –A Double Helix

  14. DNA – Sugar phosphate backbone

  15. DNA – Polynucleotide chain

  16. DNA – A Nucleotide unit

  17. DNA – Sugar / pentose

  18. DNA – Organic Bases Pyrimidine Purines

  19. DNA – Base pairing

  20. DNA – Base pairing

  21. DNA – 2 antiparallel chains

  22. DNA vs RNA

  23. DNA vs RNA

  24. DNA - The molecule of life Each cell: • 46 chromosomes • 2 meters of DNA • 3 billion DNA bases • Approximately 30,000 genes

  25. DNA replication – overall process

  26. DNA replication

  27. 28.1 From DNA to proteins

  28. 28.1 From DNA to proteins The genetic code • the way in which the base sequence in a DNA strand determines the amino acid sequence in a polypeptide

  29. 28.1 From DNA to proteins The genetic code Gln Ala Leu Ser Glu Arg Lys Thr How? Gly Asn Met Trp His Asp Phe Tyr Ile Cys Pro Val 4 bases 20 amino acids

  30. 28.1 From DNA to proteins The genetic code • three bases code for one amino acid triplet code (三聯體密碼) DNA strand amino acids

  31. 28.1 From DNA to proteins The genetic code • 43 = 64 triplet codes More than enough!

  32. The triplet code I

  33. 28.1 From DNA to proteins The genetic code • degenerate code (簡併密碼) Cys Cys

  34. The triplet code IV- degenerate

  35. 28.1 From DNA to proteins The genetic code • some are start signals and stop signals • no gaps, read in a non-overlapping manner

  36. The triplet code II- start

  37. The triplet code III- termination

  38. The triplet code IV- Non-overlapping

  39. Breaking the code

  40. Breaking the code

  41. 28.1 From DNA to proteins The genetic code • universal Cys

  42. 28.1 From DNA to proteins Animation Protein synthesis • two stages: nucleus transcription(轉錄) 1 • DNA RNA translation(轉譯) 2 • RNA polypeptide cytoplasm

  43. Central Dogma

  44. 28.1 From DNA to proteins … … … … … … … … … … 1 Transcription a The two DNA strands are held together by weak hydrogen bonds.

  45. 28.1 From DNA to proteins … … … … … … … … … … … 1 Transcription b The hydrogen bonds break and the two DNA strands separate.

  46. 28.1 From DNA to proteins … … … … … … … … … … 1 Transcription c Under the action of RNA polymerase, free nucleotides are added against a template. template strand free nucleotides

  47. 28.1 From DNA to proteins … … … … … … … … … … 1 Transcription c A messenger RNA is synthesized. template strand triplet code mRNA codon (密碼子)

  48. 28.1 From DNA to proteins … … … … … … … … … … 1 Transcription d The messenger RNA leaves the nucleus. template strand mRNA to cytoplasm

  49. Transcription

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