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Molecular Diagnosis of Genetic Diseases by Rob Elles (auth.), Rob Elles (eds.)

By Rob Elles (auth.), Rob Elles (eds.)

Professional scientific investigators current their most sensible and finest tools for the molecular analysis of universal genetic issues. The methods-organized via disorder or diagnostic area-are strong and reproducible. They comprise not just crucial daily benchtop knowledge and guideline, but in addition provide chances for introducing new molecular genetic diagnostic exams, in addition to important recommendation on controls, caliber criteria, and interpretation. one of the genetic illnesses mentioned are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Prader-Willi and Angelman syndromes, Huntington's sickness, myotonic dystrophy, fragile X disorder, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies.

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All four diseases are amenable to analysis by a modified PCR reaction followed by polyacrylamide gel electrophoresis and visualization using a simple silver staining protocol. With the exception of SBMA, Southern blotting is necessary in at least some diagnostic cases to visualize the larger repeats. A low magnesium buffer is used for PCR amplification; this maintains high levels of Taq polymerase activity while facilitating amplification of GC-rich templates. These are notoriously refractory to PCR because of a combination of high strand dissociation temperatures and strong secondary structure, Ten percent dimethyl sulfoxide (DMSO) is added to the reactions to lower the dlssociation temperature of dsDNA and to reduce secondary structure effects.

Boehringer Mannheim (Mannheim, Germany). Prepare for use by diluting down to 10 mM concentration in sterile dHzO and mix together to form an equimolar mix of all four dNTPs (or dATP, dCTP, and dTTP if 7-deaza-GTP is to be used in the PCR reaction). , avoid excessive freezing and thawing, 3. 7-deaza-GTP: Store at -2O”C, aliquot to avoid excessive freeze-thaw cycles, do not use beyond expiration date, and do not store as a solution with other deoxynucleoside triphosphates. 4. Tug polymerase: The author recommends Tuq polymerase from Perkin-Elmer Cetus (Buckinghamshire, UK), Boehringer Mannhelm, or Life Technologies Inc.

5 pA4 for multiplex primers, and 5 w for all other uses). All the multiplex primer pairs are diluted together to give a mixed 10X working stock. 1. 1. 1. L (see Note 2). 50 mMKCI, PCR Techniques for DMD/BMD 1 2 25 Track 3 4 5 6 7 exon 48 51 43 45 50 53 47 60 52 Fig. 1. Screening for dystrophin deletions using the multiplex PCR method. Track 1, deletion of exons 48-50; Track 2, deletion of exons 50-53; Track 3, deletion of exon 53; Tracks 4 and 6, no deletion; Track 5, deletion of exon 52; and Track 7, deletion of exon 45.

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