Human prion protein gene (PRNP) has been considered to be involved in the susceptibility of humans to prion diseases. Polymorphisms of methionine (Met)/valine (Val) at codon 129 and of glutamic acid (Glu)/lysine (Lys) at codon 219 are thought to play an important role in susceptibility to sporadic, iatrogenic and variant Creutzfeldt-Jakob disease (CJD). Although the genotype distribution of polymorphisms in PRNP open reading frame (ORF) has been reported in many European populations, among Asian groups, it has been reported only in the Japanese population. We examined the PRNP polymorphisms in 529 healthy Koreans. We observed that genotype frequencies at codon 129 was 94.33

作者：Byung-Hoon, Jeong；Jae-Hwan, Nam；Yun-Jung, Lee；Kyung-Hee, Lee；Myoung-Kuk, Jang；Richard I, Carp；Ho-Dong, Lee；Young-Ran, Ju；Sangmee, Ahn Jo；Keun-Yong, Park；Yong-Sun, Kim

来源：Journal of human genetics 2004 年 49卷 6期