Human Genetic Disease Analysis

Author:   K. E. Davies
Publisher:   Oxford University Press
Edition:   2nd Revised edition
Volume:   No.124
ISBN:  

9780199633098


Pages:   140
Publication Date:   01 June 1993
Format:   Hardback
Availability:   To order   Availability explained
Stock availability from the supplier is unknown. We will order it for you and ship this item to you once it is received by us.

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Human Genetic Disease Analysis


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Full Product Details

Author:   K. E. Davies
Publisher:   Oxford University Press
Imprint:   Oxford University Press
Edition:   2nd Revised edition
Volume:   No.124
Dimensions:   Width: 15.00cm , Height: 1.50cm , Length: 23.00cm
Weight:   0.420kg
ISBN:  

9780199633098


ISBN 10:   0199633096
Pages:   140
Publication Date:   01 June 1993
Audience:   College/higher education ,  Professional and scholarly ,  Postgraduate, Research & Scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   To order   Availability explained
Stock availability from the supplier is unknown. We will order it for you and ship this item to you once it is received by us.

Table of Contents

"Part 1 Foetal DNA analysis, J.M. Old: chorionic villi DNA - sampling and shipment, DNA preparation, DNA yield; amniocyte DNA - choice of sample, DNA preparation; other DNA sources; quick DNA preparation for PCR; storage of DNA; DNA analysis - southern blot analysis, polymerase chain reaction; potential problems - maternal DNA contamination, plasmid and target DNA contamination, technical difficulties, non-paternity. Part 2 The use of synthetic oligonucleotides as specific hybridization probes in the diagnosis of genetic disorders, S.W. Thein, et al: principle of oligonucleotide hybridization; oligonucleotide probe design; detection of target DNA sequence - preparation of oligonucleotide probe, oligonucleotide probe hybridization, an alternative hybridization - competition hybridization; practical applications - polymorphism in the ""c-erb-B2"" transmembrane region, specificity of competition hybridization. Part 3 Pulsed-field gel electrophoresis in the analysis of genomic DNA and YAC clones, J.T. den Dunnen et al: available PFGE systems; preparation of DNA samples - isolation of DNA in agarose, preparation of marker DNAs, restriction digestion of agarose-embedded DNA; electrophoresis - the PFGE system, gel preparation, planned DNA separations, blotting of PFGE gels, hybridization of PFGE gels, rehybridization of PFGE blots; PFGE applications - analysis of chromosomal (human) DNA, YAC technology, further applications; future developments. Part 4 Fluorescent ""in situ"" hybridization, V.J. Buckle and K.A. Rack: practical considerations - chromosome and nuclei preparation, pre-hybridization procedures, DNA resources for use as probes, probe labelling, hybridization, signal detection, chromosome banding, visualization of signal, analysis of signal, trouble-shooting; applications - direct localization within the genome, sequence order on the chromosome, structural chromosome abnormalities, numerical chromosome abnormalities, chromosome painting, nuclear organization, other applications. Part 5 Fine mapping of genes - the characterization of the transcriptional unit, M. Antoniou, et al: cDNA and genomic DNA clones; mapping the transcriptional unit - restriction map, northern blots, ""run-on"" transcription, R looping, nuclease Sl protection and southern blots, nuclease Sl protection of end-labelled probes, exonuclease VII, T7, T3 or SP6 polymerase probes, primer extensions; polymerase chain reaction (PCR). Part 6 Chromosome analysis and sorting by flow cytometry, S. Monard et al: instrumentation - safety; discussion."

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