Molecular Diagnosis of Genetic Diseases by Michael P. Bulman (auth.), Rob Elles PhD, Roger Mountford

By Michael P. Bulman (auth.), Rob Elles PhD, Roger Mountford BSc (eds.)

In this re-creation, major scientists actively engaged in offering scientific molecular genetic trying out have thoroughly revised and up to date this hugely praised paintings to incorporate the various new applied sciences and insights now on hand for the prognosis of genetic ailments. Now geared up round common applied sciences utilized to disease-specific prognosis, the authors use such methodologies as PCR optimization dosage research, mutation scanning, and quantitative fluorescent PCR for aneuploidy research, Neurofibromatosis variety 1, and Duchenne muscular dystrophy. This re-creation widens the diversity of particular diagnostic functions and comprises such new subject matters as comparative series research and an outline of tools in mutation detection. The principally favourite methodologies should be tailored to such a lot genetic stipulations for which a molecular prognosis is correct, irrespective of how widespread or infrequent their prevalence. As within the first variation, every one comfortably reproducible protocol includes step by step directions, heritage details, gear and reagent lists, and tips about troubleshooting and keeping off recognized pitfalls.
updated and hugely sensible, Molecular prognosis of Genetic ailments, moment variation integrates the entire most recent applied sciences with the now regular methods of the 1st version, and gives diagnostic molecular geneticists a different chance to sharpen their clinical abilities within the layout of assays, their execution, and their interpretation.

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P. and Southern, E. M. (1978) Use of restriction enzymes to study eukaryotic DNA methylation: I. The methylation pattern in ribosomal DNA from Xenopus laevis. J. Mol. Biol. 118, 27–47. 96. , LeBon, J. , Tanguay, R. , and Riggs, A. D. (1990 A quantitative HpaII-PCR assay to measure methylation of DNA from a small number of cells. Nucleic Acids Res. 18, 687. Diagnostic Mutation Detection 37 97. Chotai, K. A. and Payne, S. J. (1998) A rapid, PCR based test for differential molecular diagnosis of Prader—Willi and Angelman syndromes.

P. and Southern, E. M. (1978) Use of restriction enzymes to study eukaryotic DNA methylation: I. The methylation pattern in ribosomal DNA from Xenopus laevis. J. Mol. Biol. 118, 27–47. 96. , LeBon, J. , Tanguay, R. , and Riggs, A. D. (1990 A quantitative HpaII-PCR assay to measure methylation of DNA from a small number of cells. Nucleic Acids Res. 18, 687. Diagnostic Mutation Detection 37 97. Chotai, K. A. and Payne, S. J. (1998) A rapid, PCR based test for differential molecular diagnosis of Prader—Willi and Angelman syndromes.

Res. 382, 109–114. 137. , and Riesner, D. (1994) Temperature gradient gel electrophoresis (TGGE) for the detection of polymorphic DNA and RNA. Methods Mol. Biol. 31, 211–228. 138. , and Borrensen, A. L. (1991) Constant denaturant gel electrophoresis, a modification of denaturing gradient gel electrophoresis, in mutation detection. Mutat. Res. 263, 61. 139. , et al. (1994) Constant denaturant capillary electrophoresis (CDCE): a high resolution approach to mutational analysis. Nucleic Acids Res. 22, 364–369.

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