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| Mutation by Hugo de Vries |
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| Any detectable and heritable change in the genetic material (not caused by generic setregation or recombination). |
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| An individual resulting from mutation |
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| A strain, organism or gene of the type predominating in the wild population |
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| One of two or more alternate forms of a gene, occupying the same locus on a particular chromosome. |
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| Organism with two homologous chromosome sets (usually one paternal and one maternal). |
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| Organism with a single genome or chromosome set. |
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| Description of whether two alleles are the same or different |
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| Both alleles are the same |
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| The two alleles are different |
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| Dominant and recessive are |
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| Relationships between alleles of a gene, where one allele marks the phenotype of the other allele |
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| Trait manifests in the heterozygous state |
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| Trait is only visible in the homozygous state |
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| Type of mutant with no gene product produced; null complete loss of gene fxn |
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| Partial loss of gene fxn; leaky mutations not completely null |
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| Mutations in germ cells which give rise to gametes. |
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| At any stage of gametogenesis, affecting one or all of the resulting offspring |
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| In the soma or body will be transmitted only to the descendants of that cell, resulting in a mosaic organism. |
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| How many point mutations are there? |
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Definition
| 2, transitions and transversions. |
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| Purine to purine or pyrimidine to purimidine |
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| What are consequences of point mutations? |
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Definition
| Silent substituation, missense, nonsense, or frameshift. |
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| No change in amino acid sequence |
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| No change in amino acid sequence |
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| Code for a different amino acid |
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| Changes the reading frame of translation by adding or subtracting a nucleotide |
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| Changes away from wild type and changes product of gene |
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| Back mutation (revertant) |
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Definition
| Causes the originally mutant position to produce wild type product; recover fxn of gene |
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| Recover phenotype and aka true revertant; no trace of original mutation |
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| Equivalent reverse mutation |
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Definition
| Nucleotide sequence change and evidence of 2 mutations but recovers the fxn of gene. |
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| At a different location from the original mutation, and restores the overall phenotype to wild type. |
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| From the same gene suppressing phenotpe to wild type |
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| 1st mutation in one gene and 2nd mutation in another gene but still recover wild type; aka 2nd site suppressor |
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| Cells adapt or change with environment; genome change dependent on environment |
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| Mutations would arise due to environment and change genetic code |
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| Select or see mutation; mutations occur prior to changes in environment; variation in genetic material; mutations are random and happen all the time. |
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| Determined that mutations arrised spontaneously |
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| What are Max Delbruck and Salvador Luria known for? |
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| If mutations are induced by the media, roughly the same number of mutants are expected to appear on each plate. |
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| If mutations arise spontaneously during cell divisions prior to plating, each plate will have a highly variable number of mutants. |
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| Technique used in which one or more secondary petri dishes containig different solid selective growth media are inoculated with the same colonies of microorganisms from a primary plate, producing the original spatial pattern of colonies. |
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| What is Joshua Lederberg known for? |
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| Does the environment induce rare "tailor made" specific types of mutations? |
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| No, the environment merely selects from pre existing mutants. |
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| What are biochemical mutations? |
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| Metabolic mutations in single celled organisms |
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| Nutritionally independent |
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| Nutritionally dependent on a supplement |
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| Which genetic disorders are typically caused by a mutation in a single gene? |
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| Phenylketonuria (PKU) and lysosomal storage diseases |
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| Mutation in phenylalanine hydroxylase prevents metabolism of the amino acid phenylalanine. Toxic levels of Phe cause seizures and psychiatric disorders. Can be treated by diet. |
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| Lysosomal storage disease |
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| Mutations in genes enfoding proteins that promote lysosome fxn (degredation of intracellular macromolecules). Stem cell transplantation is being considered as a therapy. |
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| What is Archibald E. Garrod known for? |
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Definition
| Pioneered the field of inborn errors of metabolism. |
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| State law requires that all babie born in California have the |
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| Newborn Screening (NBS) test before leaving the hospital. |
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| Chemical rxns in the body to create energy and build tissue |
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| Hormones that affect body fxns |
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| Red blood cells that carry oxygen |
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| Affects viability of the organism |
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| Phenotype is visible only under certain environment conditions |
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