title: Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.
abstract: The two common polymorphisms (385A > G: M129V and 655G > A: E219 K) in the human prion gene (PRNP) play important roles in the pathogenesis of Creutzfeldt-Jakob diseases. We screened a total of 626 individuals, who represent three ethnic populations of China, Han, Hui, and Uyghur, for the two polymorphisms. The frequencies of M/M homozygote at residue 129 in these three groups differ significantly. The Han has a much higher frequency (98%) than Hui (85%) and Uyghur (60%). On the other hand, the frequencies of the E/E at residue 219 are higher in Uyghur (98%) and Hui (96%) than in Han (90%). We also investigated two other less common variants of PRNP, a silent substitution at residue 117 (351A > G: A117A), and one octapeptide-repeat deletion (1-OPRD) in the octapeptide-coding region. We found three Uyghur individuals with silent substitution at residue 117. Four Hui (2.0%) and one Han (0.5%) donors were found to be heterozygous for 1-OPRD. A novel three extra-repeat (72 bp) insertion within the octapeptide-coding region was identified in one healthy 11-years-old Hui. Identical mutation was also found in her mother but not her father.
authors.affiliation: CJD Surveillance Unit, Modern Virology Research Center, College of Life Sciences, Wuhan University, Wuhan, Hubei 430072, People's Republic of China.
authors.forename: Shui-Liang
authors.initials: SL
authors.lastname: Yu
authors.forename: Lei
authors.initials: L
authors.lastname: Jin
authors.forename: Man-Sun
authors.initials: MS
authors.lastname: Sy
authors.forename: Fang-Hua
authors.initials: FH
authors.lastname: Mei
authors.forename: Shu-Li
authors.initials: SL
authors.lastname: Kang
authors.forename: Gui-Hong
authors.initials: GH
authors.lastname: Sun
authors.forename: Po
authors.initials: P
authors.lastname: Tien
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Wang
authors.forename: Geng-Fu
authors.initials: GF
authors.lastname: Xiao
mesh_terms: D000682:Amyloid / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D007562:Creutzfeldt-Jakob Syndrome / Q000208:ethnology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic; D011153:Population / Q000235:genetics; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors