Sabrina Nunez, Ph.D.
M30 511 MEDICAL GENETICS
: Sabrina Nunez, Ph.D., 362-8061
The course is divided into halves. The first half focuses on the mechanisms of regulation of gene expression in eukaryotes. This includes discussions of the structure of DNA and its means of replication, the organization and packaging of eukaryotic genomes, chromatin structure and the nucleosome, the organization of polymerase II class genes, the processing of their primary transcripts, and the molecular basis for transcriptional and translational regulation including the use of transgenic mice to study cell-specific gene regulation. The second half focuses on how these concepts can be applied to an understanding of medical genetics. Topics covered include principles of Mendelian genetics, the molecular basis for various inborn errors of metabolism-their diagnosis and prenatal screening, the genetics of cancer, and finally, current strategies for mapping and characterizing the human genome. This course is cross listed with L41 (Bio 550).