Introduction to the Workshop
URLs Provided by Attendees

Abstracts

Mapping

Informatics

Sequencing

Instrumentation

Ethical, Legal, and Social Issues

Infrastructure

The electronic form of this document may be cited in the following style:
Human Genome Program, U.S. Department of Energy, DOE Human Genome Program Contractor-Grantee Workshop IV, 1994.

Abstracts scanned from text submitted for November 1994 DOE Human Genome Program Contractor-Grantee Workshop. Inaccuracies have not been corrected.

Production of probes at the Resource for Molecular Cytogenetics.

W.-L. Kuo[1,3], C. Collins[2], L. Daneshvar[1], K. Greulich[2], D. Kowbel[2], J. Marstaller[2], D. Pinkel[1,2], L. Riedell[1], F. Shadravan[2], M. Wang[2], U. Weier[2], P. Yue[1], M. Zorn[2], and J. Gray[1,2].
LBL/UCSF Resource for Molecular Cytogenetics, [1]Dept Laboratory Medicine, University of California, San Francisco, CA 94143-0808 and [2]Lawrence Berkeley National Laboratory, Berkeley, CA. [3]Corresponding author.

The LBL/UCSF Resource for Molecular Cytogenetics has been created to develop probes and associated technologies to facilitate molecular cytogenetic analyses. One goal is to develop probes optimized for use in fluorescence in situ hybridization (FISH). The majority of probes are being selected to contain specific genes or genetically mapped polymorphic loci distributed at ~5 Mb intervals over the human genome.

Human probes are selected from chromosome-specific cosmid libraries, YAC libraries and the Du Pont P1 library. The P1 genomic library is our primary source for PCR-based screening using gene or locus-specific primer pairs. Selected clones are mapped to human metaphase chromosomes by FISH. A QUantitative Image Processing System (QUIPS) developed in the Resource maps probes according to fractional location relative to the p-terminus.

To date, 411 clones have been mapped. 233 clones (218 P1's, 11 YACs and 4 cosmids) were selected for 133 loci defined by STS. These include approximately 40 genes. The rest are anonymous clones (75 P1's and 103 cosmids). Extensive probe sets have been mapped to chromosomes 3, 10, 17, 20 and 21. Our current emphasis is on isolating P1 probes at chromosomal loci known or suspected to display copy number alteration or rearrangement in human disease. So far we have isolated P1's for tumor suppressor genes and oncogenes (p53, c-MYC, GLI, SIS, E-cadherin), translocation breakpoints of clinical significance (PML, RARA, TCRA, ETO, ALL), and regions involved in contiguous gene syndromes (Angelman, Prader-Willi, Cri du chat, Wolf-Hirschhorn and DiGeorge syndrome). Information on probes developed by the Resource will be made available through GDB and through the Resource Internet Web server. A mechanism for prompt, low cost distribution of the probes is being established.

This work was funded by the Office of Health and Environmental Research, Department of Energy, under contract DE-AC-03-76SF00098 and Imagenetics.