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INTRODUCTION

Cystic Fibrosis is a degenerative disease which affects 1 in 2000 Caucasian people, and a frequent carrier of 1 in 20. Several symptoms have been associated with Cystic Fibrosis Disease such as, chronic pulmonary disease, pancreatic insufficiency, and abnormal levels of sweat electrolyte concentrations. The cause appears to be the result of gene mutations occuring on Chromosome 7. There are several signs which indicate Cystic Fibrosis in certain individuals:

• abnormally thick, gluey mucus;
• digestion is impaired, resulting in severe malnutrition;
• breathing is labored;

MOLECULAR BIOLOGY OF THE DISEASE

Cystic Fibrosis is an Autosomal Recessive Inheritance Disease producing glandular secretions clogging the lungs. A special stain was applied to the gel and a peculiar pattern was observed (see Figure 1 below). The gel patterns clearly shows that Bob is not a carrier or affected by the disease. However, Sharon and her fetus do have the mutated gene pattern.

SYMPTOMS AND TREATMENT

The symptoms of Cystic Fibrosis are; chronic pulmonary disease, pancreatic insufficiency, and an increase in the sweat electrolyte concentrations. There are several temporary treatment options. For instance, Percussion Therapy, which involves the individual to be pounded forcefully on his or her back. This procedure aids in clearing the lungs of mucus, making it easier to breath. Another treatment that is commonly used is fighting the lung infections with high doses of antibodies.

There is no known medical cure.

The predictions for the future are hopeful.

LAB PROCEDURE AND GEL/BLOT INTERPRETATION

People searching for a gene mutation linked to Cystic Fibrosis had their DNA tested. The gel blot from the DNA test revealed that Sharon and her fetus both had the recessive gene of Cystic Fibrosis. However, Sharon's husband Bob exhibits no signs of the mutated gene that causes Cystic Fibrosis.

Figure 1. This Figure shows how the DNA varies among the three gel blots. In well two and in well three, we can clearly see that Sharon and her fetus have the recessive gene that causes Cystic Fibrosis. In well one, Bob's gel blot shows no signs of Cystic Fibrosis. For additional information please refer to the links below.

STATEMENT TO FAMILY

We regret to inform you, that Sharon and her fetus do indeed carry the recessive gene for Cystic Fibrosis. It is the Heterozygus recessive gene, thus dubbing them as carriers. It is possible that if Sharon's fetus has a child in the future, there is a small chance that the child will be a carrier of the disease.

References

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