Titlebook: Neurogenetics; Methods and Protocol Nicholas T. Potter Book 2003 Humana Press 2003

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Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin GeneRK2, OMIM 602544) worldwide (.–.). The gene on chromosome 6q25.2-27 consists of 12 coding exons with an open reading frame of 1395 bp. The gene is estimated to cover >1.5 Mb. The gene product, Parkin, functions an an E3-ubiquitin-protein ligase (.). The only known substrate to date is CDCrel-1 (.) b

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Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies mental retardation as its hallmark. Patients with the syndrome often vary dramatically in presentation with a range of intellectual and behavioral deficits, and provide a diagnostic challenge for clinicians due to the subtle nature of the physical phenotype (.,.). Insta bility of a CGG repeat segme

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Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7pinocerebellar ataxia (SCA) loci have been identified and several of the SCA genes have expansion of a CAG-repeat as the underlying mutation (.,.). Assays that determine the CAG-repeat length in ., and . are used for both diagnostic and predictive testing purposes. Molecular genetic testing is neces

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