Copy Number Variation


Year 2 Flashcards on Copy Number Variation, created by gina_evans0312 on 27/12/2013.
Flashcards by gina_evans0312, updated more than 1 year ago
Created by gina_evans0312 over 10 years ago

Resource summary

Question Answer
Activating Mutation Gain of function
Deactivating mutation Loss of function
Nucleotide substitution Change of one aa to another through mutation
Nucleotide substitution in Hereditary Haemachromatosis 17A>T
Synonymous Mutation Change of base doesn't change aa coded for
Missense Mutation Mutation resulting in amino acid change
Nonsense mutation Generation of a premature stop codon
Nucleotide deletions/insertions Loss/gain of nucleotides that cause a FRAME SHIFT AHHHHHHHHHHHHHH
Splicing Mutations Mutations in splicing machinery that alters exon splicing
Copy Number Variation Deviation from normal copy number (more or less) Can be few bp long, can be whole chromosomes
Genomic Disorders Copy Number Variation Linked Disorders
DiGeorge Syndrome Caused by 1.5 million base pair deletion on chromosome 22
CNV Occurence Much higher than standard mutation rates
Gene disruption Where parts of gene are missing
Gene fusion Where area between genes is deleted causing both to be transcribed together
Revealing positional effects Position becomes homozygous, could effect regulation elsewhere
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