Codon 219 in Creutzfeldt-Jakob disease in Poland

Prion diseases are a group of etiologically heterogenous diseases. In addition to familial cases linked to mutations of PRNP open reading frame they include also cases of unknown etiology. One of the susceptibility factors to sporadic as well as iatrogenic prion diseases are PRNP polymorphisms. In t...

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Veröffentlicht in:	Acta neurobiologiae experimentalis 2002-01, Vol.62 (3), p.149-151
Hauptverfasser:	Bratosiewicz-Wasik, Jolanta, Wasik, Tomasz J, Liberski, Paweł P
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloid - genetics Codon - genetics Creutzfeldt-Jakob Syndrome - genetics DNA, Antisense - genetics Humans Mutation Point Mutation - genetics Poland Polymorphism, Genetic - genetics Polymorphism, Restriction Fragment Length Prion Proteins Prions - genetics Protein Precursors - genetics Reverse Transcriptase Polymerase Chain Reaction
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Zusammenfassung:	Prion diseases are a group of etiologically heterogenous diseases. In addition to familial cases linked to mutations of PRNP open reading frame they include also cases of unknown etiology. One of the susceptibility factors to sporadic as well as iatrogenic prion diseases are PRNP polymorphisms. In the present study, we analyzed sequences of the PRNP gene codon 219 of 16 Polish CJD cases and we found heterozygous GAG to GAT changes on the sense strand and only wild type sequence on an antisense strand. The RFLP technique was used to verify this divergence and only wild type sequences were revealed.
ISSN:	0065-1400 1689-0035
DOI:	10.55782/ane-2002-1433