By Thomas W. Prior (auth.), Nicholas T. Potter (eds.)
The swift id and characterization of neurologically correct genes holds nice power for knowing not just the pathophysiologic mechanisms of neurological ailments, but in addition for making improvements to their analysis and administration. In Neurogenetics: equipment and Protocols, a global panel of well-known educational physicians, researchers, and medical laboratory diagnosticians describe their most sensible tools for characterizing those genes, their mutations, and their proteins. supplying unique step by step directions to make sure profitable experimental effects, those specialists disguise the main equipment for mutation detection and screening, together with discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression platforms, and reports of protein expression and serve as. each one technique has been completely verified and contains notes on troubleshooting and heading off pitfalls.
finished and well timed, Neurogenetics: tools and Protocols bargains educational neurologists and scientific laboratory diagnosticians an authoritative number of without problems reproducible options which may significantly support with the analysis, administration, and figuring out of the pathophysiologic mechanisms of neurological diseases.
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Extra info for Neurogenetics: Methods and Protocols
Example text
Standard PCR specific for FMR1 (Fig. 2) often is problematic for amplifying large premutation and full mutation alleles, and does not detect methylation. Presented below are the techniques used in many laboratories for detection of all possible FMR1 mutations involving the trinucleotide repeat expansion and hypermethylation. 2. 1. Solutions for FMR1 Southern Blot Analysis Known reagent suppliers are listed but not recomended or endorsed. Other suppliers may provide the same reagents. FMR1 Trinucleotide Repeat Expansion Mutations 33 1.
L. was supported by the Deutsche Forschungsgemeinschaft (DFG). We thank the family members for their participation, N. Rawal for the establishment of the multiplex combination 4, and Dr. Merle Ruberg for helpful discussions. References 1. , et al. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392, 605 – 608. 2. , et al. (1998) Molecular genetic analysis of a novel parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the parkin gene in affected individuals.
Upon transmission to offspring. FMR1 alleles in the premutation range contain long stretches of pure repeats and clearly are at risk for expansion to full mutations. While the number and position of AGG repeats are known to be important in the overall stability of the CGG repeat sequence, sequence analysis is typically available only in research-oriented laboratories. The consequences of FMR1 repeat expansion are fascinating from the molecular biology perspective, but disconcerting from the patient care perspective as many patients have remarkable variation in FMR1.