Cystic Fibrosis

  • Created by: Katie
  • Created on: 19-05-13 12:32

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.

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Problems Caused

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.

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Gene Therapy

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

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Genetic Screening

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.

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