Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation

European Journal of Human Genetics

Volumn 12, Issue 10, 2004, Pages 867-870

  Yu, Shui Liang ^a,d   Jin, Lei ^b   Sy, Man Sun ^a,c   Mei, Fang Hua ^a   Kang, Shu Li ^a   Sun, Gui Hong ^a   Tien, Po ^a   Wang, Fu Sheng ^b   Xiao, Geng Fu ^a,d  

^a WUHAN UNIVERSITY   (China)

^b BEIJING 302 HOSPITAL   (China)

^c CASE WESTERN RESERVE UNIVERSITY   (United States)

^d HUBEI UNIVERSITY OF CHINESE MEDICINE   (China)

Author keywords

Chinese populations; Creutzfeldt Jakob diseases (CJD); Insertion mutation; Polymorphism; Prion; PRNP

Indexed keywords

OCTAPEPTIDE; PRION PROTEIN;

ARTICLE; CHINA; CHINESE; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; ETHNIC GROUP; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN POLYMORPHISM;

AMYLOID; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; POLYMORPHISM, GENETIC; POPULATION; PRIONS; PROTEIN PRECURSORS;

INSERTION SEQUENCES;

EID: 6444241321     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201245     Document Type: Article

References (21)

1. Windl O, Giese A, Schulz-Schaeffer W et al: Molecular genetics of human prion diseases in Germany. Hum Genet 1999; 105 244-252.
2. Palmer MS, Dryden AJ, Hughes JT, Collinge J: Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352: 340-342.
3. Collinge J, Palmer MS, Dryden AJ: Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 1991; 337: 1441-1442.
4. Salvatore M, Genuardi M, Petraroli R, Masullo C, DAlessandro M, Pocchiari M: Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. Hum Genet 1994; 94: 375-379.
5. Alperovitch A, Zerr I, Pocchiari M et al: Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease. Lancet 1999; 353: 1673-1674.
6. Brown P, Will RG, Bradley R, Asher DM, Detwiler L: Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: background, evolution, and current concerns. Emerg Infect Dis 2001; 7: 6-16.
7. Mead S, Stumpf MPH, Whiteld J et al: Balancing selection at the prion protein gene consistent with prehistoric Kurulike epidemics. Science 2003; 300: 640-643.
8. Shibuya S, Higuchi J, Shin R-W, Tateishi J, Kitamoto T: Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease. Lancet 1998; 351: 419.
9. Soldevila M, Calafell F, Andres AM et al: Prion susceptibility and protective alleles exhibit marked geographic differences. Hum Mutat 2003; 22: 104-105.
10. Petraroli R, Pocchiari M: Codon 219 polymorphism of PRNP in healthy caucasians and Creutzfeldt-Jakob disease patients. Am J Hum Genet 1996; 58: 888-889.
11. Furukawa H, Kitamoto T, Tanaka Y, Tateishi J: New variant prion prion in a Japanese family with Gerstmann-Strauessler syndrome. Mol Brain Res 1995; 30: 385-388.
12. Tsai M-T, Su Y-C, Chen Y-H, Chen C-H: Lack of evidence to support the association of the human prion gene with schizophrenia. Molecular Psychiatry 2001; 6: 74-78.
13. Doh-Ura K, Kitamoto T, Sakaki Y, Tateishi J: CJD discrepancy. Nature 1991; 353: 801-802.
14. Erginel-Unaltuna N, Peoc'h K, Komurcu E, Acuner TT, Issever H, Laplanche JL: Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease. Eur J Hum Genet 2001; 9: 965-968.
15. Palmer MS, van Leeven RH, Mahal SP, Campbell TA, Humphreys CB, Collinge J: Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies. Hum Mutat 1996; 7 280-281.
16. Mead S, Mahal SP, Beck J et al: Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am J Hum Genet 2001; 69: 1225-1235.
17. Xiao FX, Yang JF, Cassiman JJ, Decorte R: Diversity at eight polymorphic Alu insertion loci in Chinese populations shows evidence for European admixture in an ethnic minority population from northwest China. Hum Biol 2002; 74: 555-568.
18. Palmer MS, Mahal SP, Campbell TA et al: Deletions in the prion protein gene are not associated with CJD. Hum Mol Genet 1993; 2: 541-544.
19. Brown DR, Qin K, Herms JW et al: The cellular prion protein binds copper in vivo. Nature 1997; 390: 684-687.
20. Watt NT, Hooper NM: The prion protein and neuronal zinc homeostasis. Trends Biochem Sci 2003; 28: 406-410.
21. Goldfarb LG, Brown P, McCombie WR et al: Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 1991; 88: 10926-10930.