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Introduction to the Workshop
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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.

Low Resolution Physical Mapping of Human Chromosome 5: Cloning the Cri-du-Chat Critical Regions

D.L. Grady[1], D.L. Robinson[1], J. Overhauser[2], S. Goodart[2], M. Feder[2], A. Simmons[3], M. Lovett[3], E. Nickerson[4], J.D. McPherson[4], J.J. Wasmuth[4], E.T. Peterson[1], L.A. Chasteen[1], L.L. Deaven[1], and R.K. Moyzis[1]
[1]Los Alamos National Laboratory, Los Alamos, New Mexico, [2]Thomas Jefferson University, Philadelphia, Pennsylvania, [3]University of Texas Southwestern Medical Center, Dallas, Texas, and [4]University of California, Irvine, California.

Over 300 new STS's have been generated from flow sorted human chromosome 5 DNA. These STS's have been regionally assigned a p or q arm status. All p arm STS's have been regionally localized into 40 bins using a natural mapping panel of somatic cell hybrids. The majority of q arm STS's have been localized into 16 unique bins. The STS's appear to be uniformly distributed along the length of this 194 Mb chromosome. This current density of markers (1 STS 650 Kb) is sufficient to provide a framework map for YAC contig assembly in any region of chromosome 5. Our primary focus is the generation of a YAC contig of 5p, centered on the regions associated with the Cri-u-Chat Syndrome. Cri-du-Chat is the most common human terminal deletion syndrome (1/45,000 births). It involves deletion of regions of the short arm of human chromosome 5. Clinical features include growth and mental retardation, microcephaly, hypertelorism, epicanthal fold, and the characteristic high pitched cat like cry. A correlation between clinical features and chromosome deletion patterns has led to the identification of two regions of the short arm that appear to be crucial for the manifestation of the complete Cri-du-Chat phenotype. Loss of a small region in 5p15.2 (Cri-du-Chat critical region) correlates with all the clinical features of the syndrome with the exception of the cat-like cry, that maps to the 5p15.3 (cat-like cry critical region). A complete, non-chimeric, YAC contig of the Cri-du-Chat critical region (2 Mb) has been identified and characterized. A YAC contig of the cat-like cry critical region has been constructed and is currently being characterized. Portions of this work were funded by the U.S. Department of Energy under contract W-7405-ENG-36.