Abstract
Human prion diseases include Creutzfeldt-Jakob disease (CJD), the GerstmannSträussler-Scheinker syndrome, fatal familial insomnia, and kuru. Since 1996 a new variant of CJD (vCJD) has been known, which is associated with the bovine spongiform encephalopathy (BSE). Prion diseases are characterized by the accumulation of abnormal prion protein deposits within the brain. The inherited forms are caused by mutations in the human prion protein gene on chromosome 20. In addition, a common methionine/valine polymorphism at codon 129 of the prion protein gene modulates disease susceptibility and phenotypic variability of human prion diseases [1–4]. Several studies have shown that methionine homozygocity at codon 129 is significantly more frequent in sporadic and iatrogenic CJD compared with the genotype distribution of the Caucasian population and confers an increased risk of developing CJD [1, 5–7]. Interestingly, all vCJD patients tested were methionine homozygotes at codon 129 [8, 9].
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Burggraf, S., Kösel, S., Lohmann, S., Beck, R., Olgemöller, B. (2002). Genotyping of the Methionine-Valine Polymorphism at Codon 129 of the Human Prion Protein by Melting Point Analysis of Fluorescently Labeled Hybridization Probes. In: Dietmaier, W., Wittwer, C., Sivasubramanian, N. (eds) Rapid Cycle Real-Time PCR — Methods and Applications. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59397-0_13
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DOI: https://doi.org/10.1007/978-3-642-59397-0_13
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