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Cosmid contigs spanning 9q34 including the candidate region for TSC1
J Nahmias1, N Hornigold, J Fitzgibbon
1MRC, Human Biochemical Genetics Unit, University College, London, UK.
European Journal of Human Genetics : EJHG
|January 1, 1995
Summary
Researchers mapped the tuberous sclerosis disease gene TSC1 to 9q34. They created cosmid contigs for precise gene localization and identified new physical connections in the 9q34 region.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- The tuberous sclerosis disease gene TSC1 is located at chromosome 9q34.
- Precise localization of TSC1 has been challenging due to conflicting recombination data.
Purpose of the Study:
- To clone the target chromosomal region containing TSC1 into cosmid contigs.
- To facilitate gene isolation studies for TSC1.
Main Methods:
- Utilized Alu-PCR from irradiation hybrids to generate probes for the target region.
- Screened a chromosome-specific library to identify approximately 1,400 cosmids.
- Assembled identified cosmids into contigs using a fingerprinting technique.
Main Results:
- Successfully assembled a significant portion of the 9q34 region into cosmid contigs.
- Generated a valuable resource of cosmids for isolating expressed genes within the TSC1 interval.
- The cosmid contig assembly revealed previously unknown physical connections between genes and markers in 9q34.
Conclusions:
- The generated cosmid contigs provide a foundation for the isolation of the TSC1 gene.
- This work enhances the physical map of the 9q34 region and aids in understanding gene organization.