Mutatinos Flashcards
What are the three broad classes of mutations, and their subdivisions?
Genome- Occurs via ch. missegregation, results in aneuploidy.
Ch. mutation- Occurs during ch. rearrangement, result is translocation, insertion, deletion (possible CNV).
Gene mutation- Base pair mutation, result is a point mutation (SNP).
What are the three regions of DNA that a mutation can affect, and what are results?
Promoter- Decreases expression, or causes ectopic/heterochronic.
Protein coding region- Missense, nonsense, frame shift.
Regulatory regions- Can affect splicing or processing, such as cap and tail, thus affecting stability and half life.
What composes a point mutation?
Base pair substitutions, or indel of one or a few nucleotides.
What has a similar effect to mutations within the promoter region of DNA?
Mutations that affect produced TFs.
What are the types of splice site mutations?
Mutations within the splice site, abolishing typical splicing and leading to incorrect introns being retained.
Cryptic splice site creation, leading to unnecessary removal of needed exon sequences.
What is a non-homologous recombination mutation?
Deletion within one ch. and duplication within another of a certain gene due to an unequal crossing over event resulting from misaligned homologous chromosomes during meiosis.
