Term
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Definition
| any detectable and heritable change in the genetic material not caused by recombination. Can be Spontaneous and Induced. |
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Term
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Definition
| Not induced by a mutagenic agent. Naturally occuring, random changes, can occur during DNA replication and G1 and G2 phases of prophase. |
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Term
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Definition
| Occurs when an organism is exposed either deliberatly or accidentally to a physical or chemical agent. seen more frequently than spontaneous mutations. |
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Term
Point Mutations
(Wobble pairing) |
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Definition
| normal form of the base is paired with an inncorrect partner because of a different positioning of the atoms that form the hydrogen bonds |
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Term
| Small Additions of Deletions |
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Definition
| Depurinations and Deamination |
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Term
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Definition
| a purine either adenine or guanine is removed from the DNA a random base is selected and could lead to a mutation |
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Term
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Definition
| bases have a tendency to lose their amino groups and causes a mismatch in base pairs. |
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Term
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Definition
| Chemical, UV light, radiation |
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Term
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Definition
| form of ionizing radiation that is leading cause of chromosomal mutations in humans. Produces free radicals that react with DNA |
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Term
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Definition
| Causes mutations because the purine and pyrimadine bases in DNA absorb light in the UV radiation. Creates abnormal chemical bonds between adjacent pyrimadine molecules |
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Term
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Definition
| natural and synthetic chemicals. Based on method of action: 1)Base Analogues 2)Base modifying agent 3)Intercalating agent |
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Term
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Definition
| Have tautomers called-bromo-uracil |
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Term
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Definition
| Alternate Chemical forms in which DNA and RNA bases are able to exist |
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Term
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Definition
| Introduce alkyl groups into the base (methyl group to the 6 oxygen of guanine) |
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Term
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Definition
| Insert themselves between adjacent bases in one or both strands interferring with DNA. Cause frame shift mutations by addition and deletion. |
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Term
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Definition
| Only the individual in which the mutation occurs is affected. Not passed on to succeeding generations. |
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Term
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Definition
| produces an individual with the mutation in both its somatic and germ line cells |
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Term
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Definition
| a mutation that alters a codon to that of another amino acid that causes an altered translation product. Transition or Transversion. |
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Term
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Definition
| a purine replaces a purine and a pyrimidine replaces a pyrimidine |
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Term
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Definition
| easy to detect because they form an obvious physical diference |
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Term
| Nutritional/ Biochemical Mutation |
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Definition
| Can not be observed. Affects an organisms ability to make a particular molecule that is essential for growth |
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Term
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Definition
| affects the behavioral patterns of an organism. hard to tell apart from other problems |
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Term
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Definition
| could interfere with transcription. Can disrupt normal regulatory processes and permanently activate or deactivate a gene |
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Term
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Definition
| mutation that causes death. Ex: Tay-sacs syndrome or huntingtons disease |
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Term
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Definition
| a mutation may be present in the genome of the organism but this mutation may not be seen in that organism unless certain conditions are met. Permissive or Restrictive |
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Term
| Detecting Mutations in Plants |
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Definition
| Isolation of Proteins (Hydrolosis) -breaking down proteins into weak acids and bases. Growing cell lines in a defined growth medium |
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Term
| Detecting Mutations in Humans |
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Definition
| Pedigree analysis. Direct biochemical or molecular probing. Cells grown in culture. |
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Term
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Definition
| scientists can test for enzyme and protein defficencies. Determines the probability of offspring and patient having genetic defect. Presents options for minimizing risks. |
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Term
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Definition
| Identifies patients that are carriers for a certain mutation |
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Term
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Definition
| determines if fetus has genetic defect. Uses amniocentesis and choinic Villus Sampling |
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Term
| Spontaneous Mutation Rates |
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Definition
| Rate is low for all organisms. Rate varies considerably in different organisms. Rate varies from gene to gene. |
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Term
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Definition
| Direct Correction, Excise |
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Term
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Definition
| Relies on duplication of DNA. Reverses Damage |
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Term
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Definition
| Relies on duplication of DNA. Removes damaged section |
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Term
| Repair of UV-induced Pyrimidine Dimer |
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Definition
| uses Photoreactivation Repair to repair pyrimidine dimers. Photolyase. Can not be done in humans |
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Term
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Definition
| Uses Base Excision Repair or Nucleotide Excision Repair |
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Term
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Definition
Certain mutations are recognized by DNA Glycosylase and it breaks down the bond between a damaged base and a sugar. Leaves an AP site where is breaks called Apurine or Apyrimidine.
AP endonuclease removes AP sugar phosphate. |
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Term
| Nucleotide Excision Repair |
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Definition
| used for bulky base damage. Removes long section of bases. uvrABC generates new oligonucleotide. |
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Term
| Site Directed Mutagenesis |
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Definition
| allows researchers to introduce a design mutation to the prescribed site/gene of interest. Goal is to alter specific nucleotides. |
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Term
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Definition
| Goal is to alter a gene sufficently to render it unfunctional (null allelle). |
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Term
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Definition
| How they access a gene to be able to tell how it functions |
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Term
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Definition
| insertion process involves the replacement of a comparable gene from the organism that it originates from |
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Term
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Definition
| Genetically altered organism |
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Term
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Definition
| An attempt to treat and possibly cure diseases with cloned genes. Somatic Cell Therapy and Germ-line Cell therapy. Use retrovirus vectors (MLV)Most promising candidates have a simple defect on a single gene |
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Term
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Definition
| a cell that has a gene introduced into it by artificial means |
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Term
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Definition
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Term
| Severe combined Immunodeficiency |
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Definition
| Hyperchloresterolemia Family. Cystic Fibrosis. Ashanti DeSilva 1990 1st person to be treated. |
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Term
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Definition
| 1st person to die from gene therapy complications. Adenovirus |
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Term
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Definition
| used a retrovirus vector on a x-linked gene and patients developed leukemia like disorders |
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Term
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Definition
| a gene whose activity promotes uncontrolled proliferation in eukaryotic cells |
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