Term
| Rate of Spontaneous Mutation (3) |
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Definition
| Very Low. Varies between organisms. Varies between genes within organisms. |
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Term
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Definition
| mutation that causes the replacement of a single base nucleotide with another nucleotide. |
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Term
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Definition
| point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid. |
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Term
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Definition
| Purine replaces purine or pyrimidine replaces pyrimidine. |
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Term
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Definition
| Purine replaces pyrimidine or vice versa. |
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Term
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Definition
| Genetic Mutation due to Insertions or Deletions (Indels) |
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Term
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Definition
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Term
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Definition
| Spontaneous reconfiguration of bases. |
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Term
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Definition
| Loss of a nitrogenous base. Usually a purine. |
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Term
| Oxidative Damage to DNA (3) |
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Definition
| Reactive oxidants (Free radicals), Metabolic by-products, Hundreds of ways to mutate DNA. |
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Term
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Definition
| sequences of DNA that can move around to different positions within the genome of a single cell |
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Term
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Definition
| Amino group in C or A is converted to a keto group. |
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Term
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Definition
| Mutagenic chemicals that can substitute for one of the four bases in DNA. |
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Term
| Examples of Base analogs (4) |
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Definition
| AZT, HIV, 5-Bromouracil, 2-amino purine |
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Term
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Definition
| Donate CH2 and similar groups to amino and keto groups of bases. Results are similar to base analog. Ethymethane sulfonate is an example and most are sulfur-containing . |
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Term
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Definition
| Cause Frameshift mutation. |
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Term
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Definition
| molecular lesions formed from thymine or cytosine bases in DNA via photochemical reactions. |
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Term
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Definition
| ABO Blood Group, Two forms of muscular dystrophy, trinucleotide repeat disorders. |
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Term
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Definition
| Early deletion in the I^O allele. Frameshift mutation results in early termination. |
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Term
| Duchene Muscular Dystrophy |
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Definition
| Most severe. X-linked. No detectable dystrophin. Cause is probably early nonsense mutation. |
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Term
| Becker Muscular Dystrophy |
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Definition
| Detectable levels of dystrophin. Probably caused by amino acid substitution. |
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Term
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Definition
| CTG Repeat on chromosome 19, MDPK Gene. Dominant. Variable symptoms. |
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Term
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Definition
| CAG repeat on chromosome 4. |
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Term
| Spinobulbar Muscular Atrophy (Kennedy Disease) |
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Definition
| CAG Repeat in another gene. |
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Term
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Definition
| biological assay to assess the mutagenic potential of chemical compounds |
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Term
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Definition
| DNA Polymerase III is capable of proofreading newly added bases. Incorrect nucleotides are removed while correct one is added. |
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Term
| 3' to 5' exonuclease activity |
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Definition
| Removes bases from the end of single-stranded DNA |
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Term
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Definition
| Removes bases from middle of one DNA strand. |
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Term
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Definition
| Recognizes incorrect bases missed by proofreading. Determines correct strand by methylation of A in GATC sequence tags older strand. |
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Term
| Post-Replication Repair (3) |
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Definition
| Lesions are skipped during replication. Skipped area is replaced by recombination with complimentary strand. Gap is repaired in homolog. |
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Term
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Definition
| Repair of thymine dimers by visible blue light. Photoreactivation enzyme breaks bond between the two thymines. |
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Term
| Base Excision Repair (BER) |
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Definition
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Term
| Nucleotide Excision Repair (NER) |
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Definition
| Damanged nucelotide is removed. |
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Term
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Definition
| Damaged area is cut out. DNA Polymerase I fills the gap. DNA ligase forms phosphodiester bonds. |
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Term
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Definition
| Rare recessive skin disorder. Deficient in unscheduled DNA synthesis such as excision repair. |
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Term
| Homologous Recombination Repair |
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Definition
| Uses complimentary DNA strand on sister chromatid as template to replace damaged strand. |
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Term
| Nonhomologous end-joining (2) |
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Definition
| Occurs in G1. Involves trimming and loss of some gases. |
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Term
| Detection of Mutation in Humans |
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Definition
| Pedigree analysis; Culturing of human cells; DNA, RNA, and protein sequencing. |
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Term
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Definition
| Enzymes that recognize damaged nucleotide bases. |
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