Molecular Diagnostics by George P. Patrinos, Wilhelm Ansorge, Phillip B. Danielson

By George P. Patrinos, Wilhelm Ansorge, Phillip B. Danielson

Molecular Diagnostics, 3rd Edition, makes a speciality of the applied sciences and purposes that execs have to paintings in, improve, and deal with a medical diagnostic laboratory. every one bankruptcy comprises knowledgeable advent to every topic that's subsequent to technical information and plenty of purposes for molecular genetic checking out that may be present in complete reference lists on the finish of every bankruptcy.

Contents are divided into 3 components, applied sciences, program of these applied sciences, and similar matters. the 1st half is devoted to the battery of the main usual molecular pathology options. New chapters were additional, together with a few of the new applied sciences curious about next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies.

All revised chapters were thoroughly up to date, to incorporate not just expertise thoughts, but additionally novel diagnostic purposes. As with prior variants, all the chapters during this part incorporates a short description of the approach through examples from the world of workmanship from the chosen contributor.

The moment a part of the e-book makes an attempt to combine formerly analyzed applied sciences into different elements of molecular diagnostics, equivalent to id of genetically transformed organisms, stem cells, pharmacogenomics, smooth forensic technology, molecular microbiology, and genetic analysis. half 3 makes a speciality of a number of daily matters in a diagnostic laboratory, from genetic counseling and comparable moral and mental matters, to protection and caliber management.

  • Presents a entire account of all new applied sciences and purposes utilized in medical diagnostic laboratories
  • Explores a variety of molecular-based checks which are on hand to evaluate DNA version and adjustments in gene expression
  • Offers transparent translational shows via the pinnacle molecular pathologists, scientific chemists, and molecular geneticists within the field

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Extra resources for Molecular Diagnostics

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Hum. Genet. 89, 163e168. , 1993. Molecular diagnostics: past, present, and future. Hum. Mutat. 2, 331e337. , 1999. Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Clin. Chem. 45, 1162e1167. , 1983. Detection of sickle cell S-globin allele by hybridization with synthetic oligonucleotides. Proc. Natl. Acad. Sci. A. 80, 278e282. , 1993a. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum. Mutat.

2004). In brief, CEHDA is a high-throughput, sufficiently sensitive, and costeffective methodology and can be easily implemented to offer reliable genetic analysis in molecular diagnostic laboratories with large sample volumes. The sensitivity of the HDA approach has not been determined to the extent of the SSCP analysis. Rossetti et al. (1995) compared both SSCP and HDA assays for the detection of known mutations in a panel of four genes. Although none of these assays were performed with 100% efficiency, HDA detected slightly more variants than SSCP in the same samples.

Any given number of conformations may be supported to a variable extent by the applied electrophoretic parameters. Furthermore, the band intensity is irrelevant to allelic differences, as it is strictly dependent on the different conformations. Therefore SSCP is not a safe method to predict genedosage effects. In addition, the simultaneous detection of more than one mutation in a single DNA sample is not easily predictable, as previous data have shown that the electrophoretic pattern may vary considerably within different experiments.

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