May 19, 2009
Author(s): Jenny Paige , Dr. Kristina Behan
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.