The main focus of this years work has been to supply and staff the laboratory and to establish the repertoire of basic procedures necessary to accomplish the projects that I have initiated. In addition, I have continued work from my postdoctoral project at Michigan. The continuation of the Michigan work involves characterization of a tyrosine kinase receptor termed Etk-2. We cloned this receptor from embryonic tissue, generated cDNA sequence, determined the 5' exon structure and characterized some of expression pattern. This work will continue in collaboration with Dr. Stephen Emerson of the University of Philadelphia. The major new laboratory project is a protocol titled """"""""Etiology of sporadic multiple congenital anomaly syndrome."""""""" The goal of this project is to determine the frequency of uniparental disomy and submicroscopic translocations in a population of children with undiagnosed birth defect syndromes. Three staff are dedicated to this project, the techniques have successfully been implemented and patient recruitment has been initiated.
