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Cystic fibrosis

A genetic disorder caused by a mutant


recessive allele in which three DNA bases
are missing. This type is an example of
deletion mutation in which the gene that
codes for the CFTR is missing.
Healthy person
CFTR is a unique
transport protein that
requires ATP to
transport chloride ions
out of epithelial cells.
In this way the
epithelial membrane
is kept moist and
Chloride ions help draw water into
the secretion, thus thinning them
runny dueout. to the
watery mucus being produced.

Person with CF
Water enters the cell at
the top because
Chloride ions cannot
leave to correct the
concentration gradient
for water to move out
by osmosis. In other
words, Cl- draws water
in. Thus the epithelial
membranes are dry and
the mucus they produce
is very viscous and sticky.
Identify the
gene Make copies Use the vector
involved,for of the to insert the
example the normal allele allele into the
gene for CF is and insert target cells,the
Somatic found
geneon therapy into the body part that
chromosome vector. is infected.
7. allele is inserted into the target cell, the body part that is affected. This can be
The normal
achieved either by inserting a genetically modified virus or by using a liposome (spherical
phospholipids bilayer).

Liposome:
A copy of the normal allele is inserted into a plasmid (small loop of DNA) and liposomes
surround the plasmid to form a liposome-DNA complex

Liposome-DNA complex fuses to the epithelial cell membrane and is transported into the
cell by endocytosis

Once in the cell, the normal allele enters into the nucleus and is incorporated into the
genome and transcribed and translated to produce the functioning CFTR protein

However...delivery of the normal allele is very inefficient, especially with liposomes (only about
1/1000 genes get into epithelial cells)

Virus - the virus is used


The DNA sequence that allows a virus to replicate is removed (from the virus) and is

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