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.

Current status of the integrated physical map of chromosome 16

D.F. Callen[1,] S. Apostolou[1], S. Lane[1], S.A. Whitmore[1], N.A. Doggett[2], R.I. Richards[1], J.C. Mulley[1], G.R. Sutherland[1]
[1]Centre for Medical Genetic Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006. [2]Los Alamos National Laboratory, Los Alamos, New Mexico 87545.

The integrated map of chromosome 16 is based upon our high resolution somatic cell hybrid panel for chromosome 16. Naturally occurring rearranged chromosome 16s were isolated in mouse/human somatic cell hybrids. The panel now consists of 78 hybrid cell lines representing 90 independently ascertained breakpoints on the chromosome. With the four fragile sites these divide the 85 Mb of euchromatin into 91 bins of average size 940 Kb. There are four breakpoints in the 15 Mb of centromeric heterochromatin. Cloned DNA markers or STSs have been identified in 73 bins. To correlate the physical and genetic maps of chromosome 16 all available polymorphic markers typed on the CEPH panel of families were placed on the physical map. Gaps were targeted in the linkage map and closed by isolation and genotyping of additional PCR-based markers on these families. This resulted in the construction of a PCR-based linkage map which incorporated our 49 markers and 22 markers characterized by other laboratories, including those of the Weissenbach group. We coordinated the production of the CEPH consensus linkage map of this chromosome incorporating all PCR and non-PCR markers. This linkage map has an average marker distance of 2.8 cM and the largest gap is 11.2 cM. This already exceeds the revised 5-year Research Goal of the US Human Genome Project to have a 2-5 cM genetic map completed by 1995. All available data on markers and cloned genes from published sources, databases and unpublished data obtained as a result of our numerous collaborations have been placed on the integrated map. The map now includes 73 genes and expressed sequences, 132 microsatellite markers and 111 other DNA markers. Expressed sequences on chromosome 16 have been isolated from an hn-cDNA library of a hybrid containing only chromosome 16. Development of an integrated megaYAC, sorted chromosome 16 YAC and cosmid contig map of the chromosome by LANL with our collaboration is nearing completion.

This work was funded by the DOE Genome Program Grant DE-FG02-89ER60863.