Human Molecular Genetics

This volume is a practical guide to the application of molecular biology and genetic techniques to human cells.

It includes detailed experimental protocols for: mutation detection in human genes - chemical mismatch clevage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis; gene mapping, cloning and sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-baed DNA sequencing; transcription - promotors, transcription factors; 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; and the mouse as a model system for human molecular genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.