Abstract
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.
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Acknowledgements
We thank Drs Yong-Hee Kim and Hyoung-Doo Shin for help with statistical analysis. This study was supported by the High-Technology Development Project in Technology Development Program for Agriculture and Forestry, Ministry of Agriculture and Forestry, Republic of Korea (Project No. 204111-03).
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Jeong, BH., Kim, NH., Choi, EK. et al. Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease. Eur J Hum Genet 13, 1094–1097 (2005). https://doi.org/10.1038/sj.ejhg.5201460
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DOI: https://doi.org/10.1038/sj.ejhg.5201460
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