ABSTRACT
Objective To detect point mutations of the PRNP in 10 sporadic Creutzfeldt-Jakob disease (CJD) patients. Methods Priori protein gene open reading frame was amplified by PCR of genomic DNA extracted from peripheral blood leukocytes. Products were sequenced and digested with restriction endonuc lease Nsp I to check the phenotype at codon 129. Results Two CJD patients were confirmed at autopsy. One full sequencing of the PRNP open reading frame revealed normal, but the other revealed a single novel mutation consisting of a cytosine-to-guanine substitution at nucleotide 729, causing asparagine to replace glutamic acid at codon 211. Among 8 probable CJD patients, 2 full sequencing of the PRNP open reading frame revealed anadenine-to-guanine substitution at nucleotide 751, causing lysine to replace glutamic acid at codon 219. The patients were methionine homozygosity at codon 129. Conclusions The E211D mutation was identified in a confirmed CJD patient. The novel point mutation might be associated with familial CJD. However, E219K identified in 2 possible CJD patients was included in polymorphism of the PRNP as well as M129V. Analysis of PRNP plays an important role for diagnose of familial priori disease.