Also known as CF or Mucoviscidosis


Nature of the Genetic Difficulty

Cystic Fibrosis is an autosomal recessive genetic deformity that occurrs at the q31.2 locus of chromosome 7. There are two sets of DNA that code for the CFTR gene and a person may live unaffected with one functional set. However, when both sets are dysfunctional, cystic fibrosis is expressed. CF results from a deletion of three nucleotides that causes a loss of the amino acid phenylalanine. The loss of phenylalanine in the construction of the 1,480 amino acid protein coded for by a 230,000 base pair segment causes an abnormal structure of the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is a elementary to physiological processes occurring in multiple organs of the body and is utilized, notably, in the production of sweat, digestive juices, and mucus
Of course, there are approximately 1,400 other mutations that could possibly occur in the CFTR gene that will cause cystic fibrosis.

Basis Facts of Disease

[[Image:|thumb|400px|right|CF is an autosomal recessive disorder]]
First discovered in the 1930's cystic fibrosis is a chronic disease that affects the lungs and digestive system. It currently affects about 30,000 children and adults of the United States and about 70,000 people world-wide.
The symptoms of CF are similar in all people affected by the disease. The most common symptoms affect the respiratory system and include bronchitis, weezing, asthma, and nasal polyps. Other symptoms include weight loss, abdominal pain, pancreatitis, and infertility in men and in women. Women are made infertile by the possible formation of mucus plugs that block the entry of sperm into the fertilizing area of the vagina. Men are made infertile by the absence of the vas deferens (the tube connecting the penis to the testicles). Men, however, may still have children by way of artificial insemination and the like.


Many children who are born with cystic fibrosis live healthy lives until they reach their teenage or adulthood years. People diagnosed with CF can usually go to school, participate in many activities, finish college, and find employment just like any other person in the world. Because this disease does not severely affect most people until their later years, it allows children to have a relatively normal life compared to other diseases. Currently, about 45% of all cystic fibrosis patients are over the age of 18.
The worst symptom, and caused disability, of cystic fibrosis is lung disease. It usually worsens to the point it disables the diagnosed individual. Death from this disease is usually caused by lung disease and other compllications.
The average life span of a person with CF, if they live to adulthood, is just over 37 years. This expected life span has greatly increased in the last three decades of research and testing.

Sources Cited