Types of mutations Mutations: Mutations: protein level …guralnl/441Mutations and the...mutagens...
Transcript of Types of mutations Mutations: Mutations: protein level …guralnl/441Mutations and the...mutagens...
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Mutations and the phenotype
• Types of mutations• Agents of mutations• Mutations:
Molecular level• Mutations: protein
level• Classes of Protein
mutations
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Gene mutation
• somatic • germinal • study process of mutation • dissect a biological process
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Mutagens
• Can be physical or chemical agents
• Use Ames Test for mutagens
• Mutagens are potential carcinogens
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Agents of mutation
• Spontaneous• Physical agents• Chemical agents
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Mutagens: UV light and X-rays Radiation
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Chemical
• oxygen, ozone, superoxide
• Nitrous acid
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Mutations: Molecular level
• Transitions • Transversions
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DNA changes
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Mutations: Protein Level• 4 groups of amino acids • silent mutation • Missense mutation &
examples • neutral • non-functional • nonsense mutation • anti-nonsense • Frameshift mutation
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Inborn errors of metabolism
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Classes of Protein mutations
• Enzymes• Amino Acid
metabolism• Carbohydrate
metabolism• Lipid metabolism• Nucleic acid
metabolism• Receptor proteins• Transport proteins
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Amino Acid metabolism
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Amino Acid metabolismPhenlyalanine
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Carbohydrate metabolism
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Glycogen storage
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Nucleic acid metabolism
SCID/ADA deficiency Both B/T lymphocytes affected elevated dATP 50-100x inhibit synthesis of other deoxynucleotides
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Lesch-Nyhan syndrome
• Lack of HGPRT • x- linked • Increase de novo
purine biosynthesis • overproduction of
urate
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Problems
• Urate soluble 7 mg/dLat 37C
• cooler extremities, crstallizes
• synovial fluid • Gout
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Lipid metabolism
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Receptor proteins
• Heterozygote plasma levels of LDL: 320-500 mg/dL, increased residence time in blood
• Homozygous plasma levels of LDL: 600-1000 mg/dL
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Transport proteins
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Sickle Cell
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Alpha chain
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Alpha chain
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Cystic Fibrosis