NR ASWZ
AU Jeong,B.H.; Kim,N.H.; Kim,J.I.; Carp,R.I.; Kim,Y.S.
TI Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease
QU Journal of Human Genetics 2005; 50(6): 311-4
PT journal article
AB Association between sporadic Creutzfeldt-Jakob disease (CJD) and the prion-like protein gene (PRND) has been reported in the German population. To investigate whether the PRND polymorphisms are associated with an increased risk for developing sporadic CJD in the Korean population, we compared the genotype and allele frequencies of PRND polymorphisms in 110 sporadic CJD patients with those in 102 healthy Koreans. Two polymorphisms (P56L, T174 M) in Koreans were found in the open reading frame (ORF) of PRND. One heterozygote of P56L was observed in normal controls but not in sporadic CJD patients. A strong significant difference of PRND genotype frequency at codon 174 was found between the normal Korean population and various European populations. In contrast to results in the German population, our study did not show a significant difference in PRND genotype or allele frequency at codon 174 between sporadic CJD and normal controls. This was the first genetic association study of the ORF of PRND in an Asian CJD population.
IN Offenbar im Gegensatz zu einer deutschen Studie fanden die Autoren keine statistische Korrelation zwischen einem Polymorphismus im Codon 174 des dem Prionprotein homologen Doppel-Proteins und dem Auftreten der sporadischen CJK. Allerdings unterscheidet sich die Häufigkeitsverteilung dieses Polymorphismus auch deutlich von der in Europa.
MH Comparative Study; Creutzfeldt-Jakob Syndrome/*genetics; DNA Primers; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Korea; Polymerase Chain Reaction; *Polymorphism, Single Nucleotide; Prions/*genetics; Research Support, Non-U.S. Gov't; Sequence Analysis, DNA
AD Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, 431-060, South Korea.
SP englisch
PO Japan