Human Molecular Genetics (PDF)

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.


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* 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, cDNA isolation, differential display method, primer-based DNA sequencing.
* Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-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.