Term
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Definition
| a single base substitution |
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Term
| transition point mutation (Ts) |
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Definition
| a single base substitution within a group (two pyrimidine bases swapping e.g. T-C) |
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Term
| transversion point mutation (Tv) |
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Definition
| a single base substitution between bases in different groups/chemical classes (e.g. a pyrimidine to a purine) |
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Term
| ratio of rate of point mutations |
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Definition
| the number of observed mutations out of the Ts/Tv mutation possible types. ratio is 2:1 Ts:Tv |
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Term
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Definition
| mispairing is tolerated to allow replication errors. the next round of of base pairing will result in a transition or transverse mutation. |
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Term
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Definition
| loss of a purine base to produce an apurinic site. leads to misincorporation, no template so an adenine is usually paired. |
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Term
|
Definition
| a chemical alteration of cytosine to uracil (loss of amino group) especially common with 5-methylcytosine. The reason transition rate is so much higher. Induced in the lab by nitrous acid. |
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Term
|
Definition
| from guanine- 8-oxy-7,8-dihydrodeoxyguanine,, likely to mispair with adenine. |
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Term
|
Definition
| a wobble during replication leading to a point mutation |
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Term
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Definition
| donate alkyl groups, done by EMS in the lab to replace guanine with O6-ethylguanine which pairs with thymine. |
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Term
|
Definition
| NH2OH in lab induces hydroxylation of cytosine to hydroxylaminocytosil wich pairs with adenine. |
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Term
|
Definition
| mutation mechanisms are replication dependent and sperm cells replciate 4 x more than eggs. |
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Term
|
Definition
| two thymine bases block replication by forming covalent bonds in the present of uv light |
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Term
|
Definition
| bacteria can bypass replication block by pyrimidine dimer by a mutation prone alternative pathway. |
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Term
| insertion and deletion mutation |
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Definition
| increase or decrease the gene size |
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Term
|
Definition
| a mutation that cannot be identified as the result of an insertion or deletion mutation. occur 1/10-1/20 the rate of point mutations. |
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Term
|
Definition
| a strand loops out resulting in omission or addtion, therefore an insertion or deletion mutation |
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Term
|
Definition
| homologous chromosomes misalign, one daughter has insertion, one deletion |
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Term
| expanding nucleotide repeat |
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Definition
| a specific type of insertion, a haripin forms on newly synthesised strand leading to part of the template strand being replicated twice |
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Term
|
Definition
| the over expression of a genetic straight or the expression of it more early in development due to an expanding nucleotide repeat |
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Term
|
Definition
| a result of expanding nucleotide repeats |
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Term
|
Definition
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Term
|
Definition
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Term
|
Definition
| the new codon encodes for a different amino acid |
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Term
|
Definition
| a sense codon becomes a nonsense codon (stop codon) |
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Term
|
Definition
different sequence, same amino
acid |
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Term
|
Definition
| decreases the fitness of the organism, possibly lethal |
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Term
|
Definition
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Term
|
Definition
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Term
|
Definition
| mutations effect on fitness are dependent on the genetic background |
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Term
| human dicarboxylic aminoaciduria |
|
Definition
loss of function mutation
autosomal recessive disorder
mutation in the glutamate transporter SLC1A1, failed urinary glutamate and aspartate transport |
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Term
|
Definition
gain of function mutation
uncommon but dominant
mutations in SHP-2phosphate cause hyperactivation of its catalytic activity
also in children with leukemia |
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Term
|
Definition
| dependent on temperature or chemical conditions |
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Term
|
Definition
| hides or suppresses the effects of another mutation |
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Term
| intragenic suppressor mutation |
|
Definition
| occurs in genes containing the mutation being suppressed, e.g. another point mutation leads to a codon that encodes for the original amino acid |
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Term
| intergenic suppressor mutation |
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Definition
| occurs in gene other that the one bearing original mutation |
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Term
| inter-chromosomal duplication |
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Definition
|
|
Term
| intra chromosomal duplication |
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Definition
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Term
|
Definition
| a type of intra-duplication, next to eachother |
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Term
|
Definition
| duplication not next to eachother |
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Term
|
Definition
| new duplication is flipped |
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Term
|
Definition
| can cause unequal crossing over leading to deletion |
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Term
|
Definition
| greater than 1000 bp, 4% of human genome |
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