CK L3 Consequences of Mutations Flashcards
what does SNP stand for…? in the context of mutations
Single nucleotide polymorphisms
where is SNP located?
the 4th position of a building block or the 4th base
consequences of single nucleotide changes…?
> change gene product
change amount of the gene product
change the polypeptide length
does not have an effect
two types of single nucleotide changes…? as in categories
> Transition
> Transversion
what single nucleotide changes come under the catagory Transition….?
> change to same type of base
purine to purine (A G)
pyrimidine to pyrimidine (T C)
what single nucleotide changes come under the catagory Transversion….?
> change to different type of base
> purine to pyrimidine or vice versa
what disease is caused by one letter change in the haemoglobin
sickle cell anaemia
where is the mutation that causes sickle cell
codon 7 in HBB and the 6th amino acid
what do these mutations do?
> silent or neutral mutation
> synonymous mutation
do not have an effect
what do a missense mutation?
change in the amino acid
what does a non-synonymous mutation do…?
change in the amino acid
what does a frame shift mutation do…?
change in the polypeptide length
what does the mutations that are affecting the regulatory sequences do…?
changes in the amount of gene product
mutation and cancer- more mutation = ….?
more cell stress = more cancer cells
what is a biopsy…?
a sample of tissue taken from the body in order to examine more closely
