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A) We incubated 5 elk CWD specimens (elk 0-4) homozygous for Prnp codon 132 methionine (MM) in Tg-HuMM brain substrate (diluted 1:3) and subjected them to a single round of protein misfolding cyclic amplification followed by proteinase K digestion.
Tg mice lines expressing human PRNP mutations were also used to study the effect of the mutation on disease susceptibility.
En cuanto a la caracterizacion molecular del exon 2 del gen PRNP en la paciente y en el voluntario sano, se encontro homocigosis para todos los polimorfismos estudiados (figura 5), excepto para el 129 Met-Val, en el cual el voluntario sano resulto heterocigoto (figura 6).
High throughput is achieved by use of the LightCycler only for the diagnostic melting, whereas the specific PRNP PCR is done in a conventional thermocycler at lower cost.
BSE Resistance in Tg[Val.sub.129] Mice To evaluate the relative susceptibility of the 3 human PRNP codon 129 genotypes to BSE, we performed serial transmission studies in 3 transgenic mouse lines expressing human PrP.
Consent for full sequencing of the PRNP was not obtained; methionine homozygosity at codon 129 was identified.
For case-patients who provided appropriate consent, the entire PRNP gene coding sequence was established to exclude pathogenic mutations in this gene (13,14).
Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies?
We determined the prion protein gene (PRNP) genotype of each fawn (online Technical Appendix), and we tried to ensure that each PRNP genotype was present in each group (Table 2, http://wwwnc.
It has been proposed that the codon 129 polymorphism in the prion protein gene (PRNP) is largely correlated with phenotype heterogeneity of these diseases (1).
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Experimental transmission of brain tissue from patients of these 6 different sCJD subtypes into 3 transgenic mouse lines expressing different human prion protein gene PRNP sequences (coding for 129MM, MV, and VV) has identified 4 distinct strains of the CJD agent (3).
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