Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented.* * Mutation Detection in Human Genes – chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis.* Gene Mapping, Cloning, Sequencing – gene linkage determination, large-capacity cloning system, c DNA isolation, differential display method, primer-based DNA sequencing.* Transcription: Promoters, Transcription Factors, m RNA, – promotor mutation analysis, transcription factor identification, m RNA-protein interaction characterization.* RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology.* Genome Recombination, Amplification – recombination assays for mammalian cells, gene amplification measurement.* Receptors, Signal Transduction – intra-cellular receptor characterization, analysis of signal transduction genes.* The Mouse as a Model System for Human Molecular Genetics – mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.
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