Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.
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.
Yu
Shui-Liang
SL
CJD Surveillance Unit, Modern Virology Research Center, College of Life Sciences, Wuhan University, Wuhan, Hubei 430072, People's Republic of China.
Jin
Lei
L
Sy
Man-Sun
MS
Mei
Fang-Hua
FH
Kang
Shu-Li
SL
Sun
Gui-Hong
GH
Tien
Po
P
Wang
Fu-Sheng
FS
Xiao
Geng-Fu
GF
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*
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors