NR ATAU
AU Jeong,B.H.; Kim,N.H.; Choi,E.K.; Lee,C.; Song,Y.H.; Kim,J.I.; Carp,R.I.; Kim,Y.S.
TI Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease
QU European Journal of Human Genetics 2005 Sep; 13(9): 1094-7
PT journal article
AB The downstream prion-like protein (doppel or Dpl) shares significant biochemical and structural homology with the cellular prion protein, PrPc, which is considered as a responsible protein for the transmissible spongiform encephalopathies (TSEs) or prion diseases. Recently, polymorphisms in open reading frame (ORF) of the prion-like protein gene (PRND) have been analysed in relation to the occurrence of prion diseases and other neurodegenerative disorders. We examined the role of a single-nucleotide polymorphism (SNP) at 3' untranslated region (UTR) +28 of PRND. We analysed this polymorphism in 110 Korean patients with sporadic Creutzfeldt-Jakob disease (CJD) and 102 healthy control subjects. Significant differences in genotype (P=0.005) and allele (P=0.032) frequencies at 3' UTR +28 were observed between sporadic CJD and normal controls. This result suggests that the PRND polymorphism at 3' UTR +28 might be associated with the occurrence of sporadic CJD.
IN In Süd-Korea fanden die Autoren einen statistisch signifikanten Zusammenhang zwischen einem Einzelbasenpolymorphismus in der 3'-untranslatieren Region der mRNA für das dem Prionprotein homologe Doppel-Protein.
MH Aged; Amino Acid Sequence; Apolipoproteins E/genetics; Base Sequence; Creutzfeldt-Jakob Syndrome/*genetics; Female; Gene Frequency; *Genetic Predisposition to Disease; Humans; Korea; Linkage Disequilibrium/genetics; Male; Middle Aged; Open Reading Frames; *Polymorphism, Single Nucleotide; Prions/*genetics; Research Support, Non-U.S. Gov't; Untranslated Regions
AD Ilsong Institute of Life Science, Hallym University, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, South Korea.
SP englisch
PO England