pack 6- mutations Flashcards
define a gene mutation
a gene mutation is a change in the base sequence of amino acids
types of mutation
deletion
substitution
addition
what is substitution
right base substituted for the wrong base
what is deletion
a base is missed
what is addition
an extra base is addes
which causes frameshift
addition and deletion
what is frameshift
every DNA triplet after the mutation will change.
why might substitution not change protein
DNA has a degenerate nature
codon may still code for same amino acid meaning primary structure remains the same.
germ line mutation
occurs in the gametes and passed onto future generation
somatic mutations
occur from birth and die with the individual.
type of protein- CFTR protein
channel
where is the CFTR protein found
cell membrane of mucus producing cell (Goblet cells) lining the respiratory, digestive and reproductive system
role of CFTR protein
moving chloride ions across cell membrane
what happens if CFTR protein doesnt wrok
cannot transport chloride ions
sodium ions do not moveout of the cell into the mucus
water cannot move out of cell by osmosis
mucus become thicker and stickier blocking parts of body as cilia cannot move it
impair systems.
