SEASTARS
The Molecular Perspective of Cystic Fibrosis
Author(s): Jenny Paige , Dr. Kristina Behan
Abstract:
This research project will investigate the gene and protein associated with Cystic
Fibrosis. About 2,500 babies are born with CF each year in the United States, and
approximately 1 in every 20 Americans carries an abnormal "CF gene" with no ill effects.
For the most part these 12 million people are unaware that they are carriers. The most
common mutation, delta F508, will be identified in protein and DNA sequence. This mutation
can be found on human chromosome seven in the q31-q33 region. A 6100-bp mRNA transcript
translates into the 1480 amino acid sequence of CFTR protein. In cystic fibrosis, the
phenylalanine located at position 508 is missing, meaning that the chloride ion transport
is severely decreased. PCR will be used to amplify the mutation and the wild type. Agarose
gel electrophoresis will be performed and evaluated.