NR ARLG
AU Yu,S.L.; Jin,L.; Sy,M.S.; Mei,F.H.; Kang,S.L.; Sun,G.H.; Tien,P.; Wang,F.S.; Xiao,G.F.
TI Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation
QU European Journal of Human Genetics 2004 Oct; 12(10): 867-70
PT journal article
AB 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.
AD CJD Surveillance Unit, Modern Virology Research Center, College of Life Sciences, Wuhan University, Wuhan, Hubei 430072, People's Republic of China.
SP englisch
PO England