Random Mapping of Tourette Syndrome Using Hypervariable ‘minisatellite’ DNA probes

Grant Type
Basic
Grant Year
1988
Institution Location
MO
Institution Organization Name
Washington University
Investigators Name
Devor, Eric, PhD

Familiar transmission of Tourette Syndrome (TS) via a single dominant mutation has been unequivocally established by a number of recent genetic studies that individuals who carry this mutation do not always express TS, but can pass it on to their offspring who will express it, is also well documented. The task at hand, therefore, is to identify this gene using recombinant DNA techniques, to determine its precise location on a particular chromosome, and, eventually, to clone the gene in order to elucidate the exact nature, of the defect leading to TS. The process of searching for the TS gene can be very tedious, time consuming and expensive. The purpose of this project is to use a set of hypervariable “mini-satellite” DNA probes, which are able to detect variation at many different sites on many different chromosomes simultaneously, in hopes of identifying the TS gene without having to use the chromosome by chromosome strategy. Should one of these probes yield a positive result, the DNA fragment marking the TS gene region will be amplified and cloned for use as a chromosome-specific probe via standard molecular technique. The initial phase of this study consists of obtaining DNA samples (extracted from whole blood) from ten to twenty selected families with at least two confirmed cases of TS. These samples will then be screened via the hypervariable DNA probes. Subsequent studies of these families using other probes will be determined, in part, by the results of the initial screening. Eric J. Devor, Ph.D. Washington University School of Medicine, St. Louis, MO Award: $15,000 Tourette Association of America, Inc. – Research Grant Award 1988