Mod 9 - Effects of mutations, cystic fibrosis Flashcards
monogenic disorders
inhered diseases caused by defects in individual genes
how many monogenic disease are there
~6000 known
~10,000 estimated total
most common monogenic disorder
cystic fibrosis
what number chromosome is the CFTR gene found
chromosome 7
what does CFTR stand for
cystic fibrosis transmembrane regulator
what does CFTR gene do
directs synthesis of CFTR protein
what does CFTR protein do
sits on surface of cells
regulates balance of salt and water inside and outside the cell
what does mutation in CFTR cause
dysfunction of salt and water balance
so thick mucous results
and exessive loss of salt in sweat
susceptible to lung bacterial infection
what is the most common mutation for cystic fibrosis
deltaF508 or F508del
what does delta mean in mutation
deletion
how many nucleotides are deleted in this mutation
3
what AA would the removed codon have coded for
phenylalanine (hence the F)
and it’s the 508th amino acid in the chain
what happens because of the lack of phenylalanine in the chain
the CFTR protein still made but cant get to the cell surface
what is 2nd most common mutation of cystic fibrosis
G542X
what type of mutation is the G542X mutation and what amino acid does it affect
glycine at position 542
turns it into a stop codon (hence the X)
