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

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

Specialist scientific investigators current their top and greatest equipment for the molecular prognosis of universal genetic issues. The methods-organized via affliction or diagnostic area-are powerful and reproducible. They include not just crucial daily benchtop knowledge and guideline, but additionally provide percentages for introducing new molecular genetic diagnostic checks, in addition to valuable 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 sickness, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies.

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13. 15% formaldehyde. , within 3 min) before use (see Note 1). 14. 75% NazCO,. Prepare a 10X stock of 7 5% Na,CO,. Store at room temperature. 15. , part no. SE1202 Hoefer Scientific Instruments, San Francisco, CA). 16. , part nos SE1210 and SE1214 Hoefer Scienttfic Instruments). 17. e , Stratatips (Stratagene Cloning Systems, La Jolla, CA). 2. Southern Blotfhg Purity of reagents is of utmost importance for success, ensure that analytical grade reagents are used for the preparation of all solutions.

If a deletion of a single exon is observed, then ideally the result should be confirmed either by cDNA analysrs usmg Southern blotting or by PCR analysis using an alternative primer pair If when using the multiplex system for a prenatal dtagnosis a nondeleted male result is obtained, then the sample should be checked for maternal contamination by comparmg the fetal and maternal DNA samples usmg an X chromosomespecific microsatellite marker for which the mother is heterozygous. Any sign of heterozygosity in the male fetus would invalidate the multiplex result.

5. 6. 7. 8. 9. ucts If products are seen m the negative (no DNA) control, then the results are invalid, and all working stocks should be discarded and fresh solutions made up. ) that is used for the majority of PCR applications. An ammomum sulfate-based buffer is essential for this and other multiplex PCR systems. In addition to the obligatory no DNA control, always run a female sample as a positive control, and samples from patients with known deletions covering all the exons in the multiplex reaction as negative controls.

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