The goal is to train an ophthalmologist to achieve independence as a molecular geneticist. Upon completing this research plan, the applicant will have achieved independence as a capable researcher in the molecular aspects of human genetics and will utilize this background to study hereditary eye diseases. This proposal includes completing a series of molecular genetics courses for basic foundation, a research proposal utilizing recombinant DNA techniques and several months of clinical genetic training. This research will be directed towards the understanding of the evolution of the human rRNA gene. DNA from several primates will be restricted by a specific restriction endonuclease and from each primate a specific ribosomal RNA gene fragment will be separated by CsCl centrifugation followed by gel electrophoresis. The specific fragment from each primate will be removed from the gel and recombined with a lambda vector. Recombinant phages will be plated on E. coli. The phages which show hybridization will be isolated, and DNA prepared from them. In this way, purified single gene fragments from each primate can be compared. Methods for comparison will include restriction fragment mapping and DNA sequencing. Understanding the evolution of the ribosomal gene will give us a panoramic view of evolution that may not be possible with any other gene.
| Stambolian, D; Lewis, R A; Buetow, K et al. (1990) Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet 47:13-9 |
| Lewis, R A; Nussbaum, R L; Stambolian, D (1990) Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. Ophthalmology 97:110-20;discussion 120-1 |
