Abstract
Human prion diseases occur in inherited, sporadic and acquired forms. The inherited forms are caused by coding mutations in the PrP gene; genetic susceptibility to acquired and sporadic disease is determined by a common protein polymorphism (at PrP residue 129), homozygotes being at higher risk. Recently a “new variant” of human prion disease (vCJD) has been reported in the UK and putatively linked to BSE transmission to humans. Molecular genetic analysis of PRNP coding and promotor sequence in eight vCJD cases has not to date provided evidence of genetic susceptibility factors with the exception that all are homozygous for methionine at residue 129 of PrP.
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© 1998 Springer Science+Business Media New York
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Collinge, J. et al. (1998). Molecular, Genetic and Transgenetic Studies of Human Prion Disease. In: Morrison, D.R.O. (eds) Prions and Brain Diseases in Animals and Humans. NATO ASI Series, vol 295. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-1896-3_32
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DOI: https://doi.org/10.1007/978-1-4899-1896-3_32
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