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GENEĀ 524. Advanced Medical Genetics: Molecular & Cytogenetics. 2 - 3 Units.

This course provides an in-depth forum for discussion of fundamental principles regarding clinical cytogenetics and molecular genetics and their relevance to medical genetics, genomics and genetic counseling. Following a historical overview, topics include a discussion of numerical and structural aberrations, sex chromosome abnormalities, issues regarding population cytogenetics, clinical relevance of such findings as marker chromosomes, mosaicism, contiguous gene deletions and uniparental disomy. The course will cover principles of molecular genetics including structure, function and regulations of genes (DNA, RNA, proteins), genetic variation, inheritance patterns and both cytogenetic and molecular laboratory techniques (fluorescence in situ hybridization, micro-array, SNP analyses, sequencing) in the clinical laboratory. Students who register for 3.00 credit hours are required to do an additional paper.