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, 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.
McKinnon PJ & Caldecott KW (2007) DNA strand break repair and human genetic disease. Annu. Rev. Genomics Hum. Genet. 8, 37–55. [Reviews the repair of single-strand and doublestrand breaks, and the diseases resulting from defects.] ...
This work provides guidance on the principles underlying modern human molecular genetics. This new edition has been updated to take account of the changes in our understanding of this field since the late 1990s.
Green, E. D. and P. Green. 1991. Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences. PCR MethodsAppl1:77–90. Grützner, F. et al. 2002. Four-hundred million years of ...
Human Molecular Genetics 2 Tom Strachan & Andrew P. Read "truly a Rolls Royce amongst textbooks" — Molecular Medicine Today "the best text to introduce students and scientists to the...
This third edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field. Now updated and revised throughout, the material covered...
Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications.
This second edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field.
Begins with molecular characterization of the human genome (rather than the conventional descriptions of Mendelian inheritance, pedigree analysis, and chromosome abnormalities), and maintains this emphasis on understanding human genetics in ...
Rev. ed. of: Human molecular genetics 3 / Tom Strachan and Andrew Read. 3rd ed. c2004.
Wainscoat J.S. , Hill A.V.S. , Boyce A.L. , Flint J. , Hernandez M. , Thein S.L. , Old J.M. , Lynch J.R. , Falusi A.G. ... Warburton P.E. , Waye J.S. , Willard H.F. ( 1993 ) Nonrandom localization of recombination events in human alpha ...