Term
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Definition
hypercoagulation vessel damage stasis |
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Term
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Definition
| affect structure and function of individual genes |
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Term
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Definition
| mutation in somatic genes that are NOT passed on to future generations |
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Term
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Definition
| mutations that affect the number of chromosomes in the cell |
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Term
| Different types of nucleotide substitutions |
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Definition
missense substitution chain termination RNA Processing Hotspots |
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Term
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Definition
mutation of single nucleotide, altering code in triplet sequence, making it code for a different AA (ex: sicke cell) |
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Term
| Define chain termination mutations |
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Definition
| pt mutations in DNA sequence that cause replacement of normal codon by termination codon |
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Term
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Definition
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Term
| First AA in a polypeptide chain |
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Definition
| Methionine is always first AA |
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Term
| Consequences of premature mutations |
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Definition
mRNA is unstable and no translation in possible protein truncated, usually unstable, so rapidly degraded in cell
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Term
| Define RNA processing mutations |
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Definition
| defect in mechanism that takes RNA and makes it a mature mRNA (polyA tail, mG cap, splicing) |
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Term
Difference btw transition and transversion |
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Definition
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Term
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Definition
amplification of trinucleotide repeats during gametogenesis (ex: Hunington's disease, Fragile X) expands during future generations
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Term
| Sex differences in mutation rates |
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Definition
DNA undergoes more replication in men than in women highly penetrant, autosomal dominant disorders usually missense mutations in the paternal germline
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Term
| Examples of mutations usually carried in paternal germline |
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Definition
Pfiefer syndrome Crouzan syndrome Apert syndrome
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