Genetics, Lecture 1 &2 Purines & Pyrimidines (Slides)

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    Purines

    Adenine = 6-amino purine

    Guanine = 2-amino-6-oxy

    purine

    Hypoxanthine = 6-oxypurine

    Xanthine = 2,6-dioxypurine

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    Pyrimidines

    Uracil = 2,4-dioxypyrimidine

    Thymine = 2,4-dioxy-5-methyl pyrimidine

    Cytosine = 2-oxy-4-

    amino pyrimidine Orotic acid = 2,4-

    dioxy-6-carboxypyrimidine

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    Medical relevance of nucleotide

    pathwaysCritical in cancer treatment

    Hydroxyurea, anti-folates, FdUMP, 5-FU, etc

    Antiviral therapies

    acyclovir and herpes

    Important inborn errors and pathologies

    Adenosine deaminase and SCIDS

    Lesch-Nyhan Syndrome

    Hyperuricemia

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    Lesch-Nyhan syndrome

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    Orotic aciduria

    an inherited human disease caused by adeficiency in the multifunctional enzymethat catalyzes the last 2 steps in the

    pyrimidine synthesis large amounts of orotic acid in urine retarded growth and severe anemia

    treat by administration (injection) of uridineand/or cytidine

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    CLINICAL SIGNIFICANCE

    6-Mercaptopurine Inhibits PRPP Amidotransferase, IMP DHASE,Adenylsuccinate synthase

    5-Fluorouracil(FUTP) Inhibit maturation of r,m RNA(FdUMP) Inhibits thymidylate synthase

    Methotrexate Inhibits H2 folate reductase.Azaserine : Inhibits enzymes that utilize gln as N doners(Gln antagonists)6-Diazo-5-oxo-1-norleucine: (Gln antagonists)Hydroxyurea: Inhibits ribonuleotide reductase.

    3-azido-3-deoxythymidine -AZT :antiviral-chain termination(pyr analog)

    Acycloguanosine- Acyclovir: "( pur. Analog)

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