Informations du cours

Medical Biochemistry is the area of general pathology that performs analyses on human specimens such as blood plasma and serum, urine, cerebrospinal fluid, serous fluids and tissue biopsies. The course describes common tests used to assist with the diagnosis and treatment of human diseases. In addition, the course also provides a broad overview of the principles of medical genetics and human molecular genetics. Emphasis in this course is put on the following topics; Basic principles & Practices in the medical biochemistry laboratory, human specimen collection for diagnostic testing in clinical chemistry, analytical procedures in medical biochemistry, biochemistry disorders of carbohydrate, lipid, amino acid and protein metabolism, common analysis for assessment of human organ system functions, diagnosis of renal, cardiac, and liver functions, and analytical techniques such as immune assay, gas analysis,  electrophoresis, blood pH and spectrophotometry. The course also covers other concepts of medical genetics such as; Meiosis, homologous recombination, resolution of Holiday structures, illegitimate recombination. Genetic disease patterns, autosomal dominant, recessive, X-linked, penetrance, polygenic, genetic imprinting. Population genetics, polymorphism/genetic variation, Hardy-Weinberg equilibrium, factors affecting allele frequencies. Quantitative traits, twin studies, heritability. Cytogenetics analysis, chromosome abnormalities and related studies. Molecular markers, RFLPs, VNTRs and micro-satellites, DNA fingerprinting. Basis of genetic mapping and positional cloning. Genetic association studies. Cancer genetics. Production of mouse mutants. Human gene therapy.