Genotype patterns and characteristics of PRNP in the Korean population.

Prion
Sol Moe LeeSu Yeon Kim

Abstract

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 frequencies in PRNP in discriminated prion disease patients group (n = 22), suspected prion diseases patients group (n = 163) and the Korea Association REsource (KARE) data group (n = 296) in Korea. The sequencing regions were promoter region, exon1 and exon2 with their junction parts among 481 samples. A total of 25 SNPs were shown in this study. Nucleotide frequencies of all SNPs are exceedingly tended to bias toward dominant homozygote types except i...Continue Reading

References

Feb 13, 1992·The New England Journal of Medicine·R MedoriP Cortelli
Oct 31, 1991·Nature·K Doh-uraJ Tateishi
Jun 1, 1995·Brain Research. Molecular Brain Research·H FurukawaJ Tateishi
Aug 1, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·C TranchantA Delacourte
Jun 18, 1998·Annals of Neurology·S ShibuyaT Kitamoto
Dec 20, 2000·The Journal of Infectious Diseases·H S LeeL G Goldfarb
Nov 16, 2001·Archives of Neurology·P K PanegyresS R Dlouhy
Feb 19, 2004·European Journal of Human Genetics : EJHG·Esther A CroesCornelia M van Duijn
May 19, 2004·Journal of Human Genetics·Byung-Hoon JeongYong-Sun Kim
Oct 30, 2007·Journal of Neurology·Yusei ShigaYasuo Itoyama
Jun 14, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·B-H JeongY-S Kim
Feb 21, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·M SynofzikL Schöls
Apr 14, 2010·Journal of Clinical Neurology·Min Jeong ParkJae Woo Kim
Aug 11, 2010·Archives of Neurology·Ana LukicSimon Mead
Sep 22, 2010·Brain : a Journal of Neurology·Ichiro NozakiMasahito Yamada

❮ Previous
Next ❯

Citations

Mar 23, 2013·Current Opinion in Genetics & Development·Sarah E LloydJohn Collinge
May 23, 2014·Journal of Korean Medical Science·Byung-Hoon Jeong, Yong-Sun Kim
Jun 3, 2016·Infectious Diseases of Poverty·Cao Chen, Xiao-Ping Dong

❮ Previous
Next ❯

Related Concepts

Related Feeds

Bovine Spongiform Encephalopathy

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.

Bovine Spongiform Encephalopathy (MDS)

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.