1. ¹CJD Surveillance Unit, Modern Virology Research Center, College of Life Sciences, Wuhan University, Wuhan, Hubei 430072, People's Republic of China
2. ²Beijing Institute of Infectious Disease, Beijing 302 Hospital of PLA, Beijing 100039, People's Republic of China
3. ³Institute of Pathology, and Department of Neurosciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44120-1712, USA

Correspondence: Dr Geng-fu Xiao, Tel: +86 27 87166272; Fax: +86 27 87869897; E-mail: gxiao@whu.edu.cn; Dr Fu-Sheng Wang, Fax: +86 10 63831870; E-mail: fswang@public.bta.net.cn

⁴Current address: Department of Microbiology & Immunology, Hubei College of Chinese Traditional Medicine, Wuhan, Hubei 430061, People's Republic of China

Received 26 February 2004; Revised 28 April 2004; Accepted 12 May 2004; Published online 21 July 2004.

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.