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.

Chromosome Mapping by Quantitative Image Analysis: New Tools and Applications

Babetta L. Marrone, Gary C. Salzman, Stephanie Pendergrass, Julia Gonzales, Cheri Potter, James H. Jett, and Larry Deaven[1]
Cell Growth Damage and Repair Group, LS-1, M888, Life Sciences Division, and [1]Center for Human Genome Studies, Los Alamos National Laboratory, Los Alamos, NM 87545

Several software tools have been developed to facilitate cytogenetic mapping of DNA sequences. The DNA sequences are labeled on human metaphase chromosomes by one- or two-color Fluorescence In Situ Hybridization (FISH) and chromosome images are captured by computer-assisted digital microscopy. The tools include: 1) High precision fractional length analysis, for locating FISH-labeled DNA sequences with 1 Mb resolution on metaphase chromosomes; 2) High resolution two-color analysis, for ordering closely spaced or partially overlapping FISH signals; and 3) DAPI-band profiling to facilitate cytogenetic band assignments of FISH-labeled DNA sequences or sequences labeled by Primed In Situ elongation (PRINS). Examples of the applications of these tools will be presented, including localization and sub-band ordering of mega-YACs surrounding DNA repair genes on chromosome 2 and chromosome 5; whole genomic screening for clusters of DNA repeat sequences labeled by PRINS; and mapping gaps in the nearly completed LANL chromosome 16 mega-YAC map.

Work performed under U.S. Department of Energy contract W-7405-ENG-36.