18th Annual Student Research Conference
Science
Locating Mutations of the FLNA Gene for X-linked Human Disorders
Megan B. Harney
Dr. Jose Herrera and Dr. Andrew Lidral (University of Iowa), Faculty Mentors
Otopalataldigital Syndrome (OPD) is a rare, X-linked birth defect distinguished by cleft palate and other skeletal abnormalities. The FLNA gene has been identified as the gene harboring the mutations that cause OPD. The FLNA gene codes for the widely expressed Filamin A protein which is responsible for binding actin, cytoskeleton formation, and organogenesis. The goal of this research was to characterize OPD patients for mutations of the FLNA gene. The DNA of six patients was sequenced using a PE-Applied Biosystmes Model 3700 sequencer and analyzed with the POLYPHRED and CONSED programs. The results conclusively determined which patients had OPD, further information about the biology of the FLNA gene was obtained, and the results contributed to collaborative, on-going OPD research which will help affected individuals and families worldwide.
Keywords: Genetics, Birth Defect, Mutations, Gene, OPD
Topic(s):Biology
Presentation Type: Oral Paper
Session: 41-1
Location: VH 1412
Time: 2:15