1.4 Flashcards
what is a single gene mutation
the alteration of a dna nucleotide substance as a result of substitution , insertion or deletion of nucleotides
what a missense mutation
one nucleotide is changed for another resulting in another amino acid being made
what is a nonsense mutation
nucleotide substitution that results in a premature stop codon, making a shorter protein
what is a splice site mutation
effects the boundaries between exons and introns , resulting in some introns being retained or some exons not being included , making a different protein
what is an insertion mutation
a nucleotide is inserted causing a frame shift changing all amino acids after the mutation
what is a deletion mutation
a nucleotide is deleted causing a frame shift changing all the amino acids after
give an example of a issue from a missemse mutation
sickle cell disease
pku
give an example of a issue from nonsense mutations
duchenne muscular dystrophy
give an example of an issue from a splice site mutation
beta thalassemia
what is an issue with an insertion mutation
tay sachs disease
give an example of an issue from a deletion
cystic fibrosis
what is a duplication chromosome mutation
a section of chromosome is added to its homologous partner
what is a chromosome deletion mutation
where a section of chromosome is removed
what is an inversion chromosome mutation
a section of chromosome is reversed
what is a translocation mutatation
section of chromosome is added to another that’s not it’s homologous partner
give an example of an issue caused by a deletion chromosome mutation
cri du chat
give an example of an issue cause by an inversion mutation
haemophilia a
what is an issue cause by a translocation mutation
chronic myeloid leukemia
