COSMID CONTIGS SPANNING 9Q34 INCLUDING THE CANDIDATE REGION FOR TSC1

The tuberous sclerosis disease gene TSC1 has been mapped to 9q34. Howe ver, its precise localisation has proved problematic because of confli cting recombination data. Therefore, we have attempted to clone the en tire target area into cosmid contigs prior to gene isolation studies. We have used Alu-PCR from irradiation hybrids to produce complex probe s from the target region which have identified 1,400 cosmids from a ch romosome-specific library. These, along with cosmids obtained by other methods, have been assembled into contigs by a fingerprinting techniq ue. We estimate that we have obtained most of the region in cosmid con tigs. These cosmids are a resource for the isolation of expressed gene s within the TSC1 interval. In addition, the cosmid contig assembly ha s demonstrated a number of previously unknown physical connections bet ween genes and markers in 9q34.