Flashcards
Copy Number Variation
Cards in this deck (16)
- 1Activating MutationGain of function
- 2Deactivating mutationLoss of function
- 3Nucleotide substitutionChange of one aa to another through mutation
- 4Nucleotide substitution in Hereditary Haemachromatosis17A>T
- 5Synonymous MutationChange of base doesn't change aa coded for
- 6Missense MutationMutation resulting in amino acid change
- 7Nonsense mutationGeneration of a premature stop codon
- 8Nucleotide deletions/insertionsLoss/gain of nucleotides that cause a FRAME SHIFT AHHHHHHHHHHHHHH
- 9Splicing MutationsMutations in splicing machinery that alters exon splicing
- 10Copy Number VariationDeviation from normal copy number (more or less) Can be few bp long, can be whole chromosomes
- 11Genomic DisordersCopy Number Variation Linked Disorders
- 12DiGeorge SyndromeCaused by 1.5 million base pair deletion on chromosome 22
- 13CNV OccurenceMuch higher than standard mutation rates
- 14Gene disruptionWhere parts of gene are missing
- 15Gene fusionWhere area between genes is deleted causing both to be transcribed together
- 16Revealing positional effectsPosition becomes homozygous, could effect regulation elsewhere
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- Year 2 Flashcards on Copy Number Variation, created by gina_evans0312 on 27/12/2013.
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- gina_evans0312
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