Cystic Fibrosis

Cystic Fibrosis is a genetic disorder caused by a mutation of a single gene.

A mutation is where there is a change in the base sequence on strand of DNA, this then leads to a change in the amino acid sequence in the protein.

Gas Exchange; mucus accumaltes in the lungs, this leaves a reduced surface area in the lungs and also traps bacteria which could lead to infection. 

Digestion; mucus blocks the pancreatic duct, therefore digestive enzymes can not reach the samll intestine.

Reproduction; mucus can block the cervix in women and the sperm duct in men, blocking the means of reproduction.

Gene Therapy is used to replace faulty alleles that cause inherited disorders, it is done by inserting a normal allele into the affected area.

Someantic therapy;

The gene involved is identified, copies are then made of the normal allele and inserted into a vector. There are two common types of vectors viruses and lopsomes. The vector is then used to target cells and insert the allele

Pre-natal DNA Testing,

Chronic Villus Sampling is where syringe is used to take a sample of embryonic tissue from the placenta and it is analysed for faulty alleles.

Aminocentesis is where a syringe is used to withdraw amniotic fluid which contains fetal cells from the embryo, this fluid is then analysed for faulty alleles.

Pre-implantation Genetic Diagnosis,

Embryos that are created through IVF will be tested for faulty alleles, and only this embryos that are healthy are then implanted into the mother.