biostudies-literatureUnknown6(4)Moe Lee SCreutzfeldt-Jakob disease (CJD), included in the human transmissible spongiform encephalopathies (TSE), is widely known to be caused by an abnormal accumulation of misfolding prion protein in the brain. Human prion protein gene (PRNP) is mapped in chromosome 20p13 and many single nucleotide polymorphisms (SNPs) in PRNP have been discovered. However, the functionality of SNPs in PRNP is yet unclear, though several SNPs have been known as important mutation related with susceptibility human prion diseases. Our aim is to identify specific genotype patterns and characteristics in the PRNP genomic region and to understand susceptibility among Korean discriminated prion disease patients, suspected CJD patients and the KARE data group. Here, we have researched genotypes and SNPs allele frequenciePrion375-82https://www.ebi.ac.uk/biostudies/studies/S-EPMC3609067biostudies-literatureGenotype patterns and characteristics of PRNP in the Korean population.PMC3609067Moe Lee SSun Park JYeon Kim SKyeong Kim CRan Ju YChoi BYWook Hyeon JfalseGenotype patterns and characteristics of PRNP in the Korean population.Creutzfeldt-Jakob disease (CJD), included in the human transmissible spongiform encephalopathies (TSE), is widely known to be caused by an abnormal accumulation of misfolding prion protein in the brain. Human prion protein gene (PRNP) is mapped in chromosome 20p13 and many single nucleotide polymorphisms (SNPs) in PRNP have been discovered. However, the functionality of SNPs in PRNP is yet unclear, though several SNPs have been known as important mutation related with susceptibility human prion diseases. Our aim is to identify specific genotype patterns and characteristics in the PRNP genomic region and to understand susceptibility among Korean discriminated prion disease patients, suspected CJD patients and the KARE data group. Here, we have researched genotypes and SNPs allele frequencie2012-01-01T00:00:00Z2012 Sep-Oct2025-05-29T21:25:20.464Z2019-03-27T01:06:39ZS-EPMC36090672256119310.4161/pri.20195