Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.

Erginel-Unaltuna N., PEOC'H K., KOMURCU E., ACUNER T. T., Issever H., LAPLANCHE J.

European journal of human genetics : EJHG, vol.9, no.12, pp.965-8, 2001 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 12
  • Publication Date: 2001
  • Doi Number: 10.1038/sj.ejhg.5200754
  • Journal Name: European journal of human genetics : EJHG
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.965-8
  • Keywords: Creutzfeldt-Jakob disease, prion, gene, PRNP, polymorphism, Turkey, population, genetic, CODON-129, GENOTYPE, SUSCEPTIBILITY, DELETION, FAMILY, CJD
  • Istanbul University Affiliated: Yes


A polymorphism (M129V) at codon 129 of the prion protein gene (PRNP) results in either a methionine residue (Met) or a valine residue (Val) and is known to determine susceptibility for the development of sporadic or acquired Creutzfeldt-Jakob disease (CID). The distributions of M129V genotypes and alleles in various general populations have been reported and there are clear differences between Western Europeans and East Asians. We analysed the coding sequence of the PRNP gene in 100 healthy Turkish subjects to determine whether the distributions of the M129V genotypes and alleles or other PRNP gene variants in the Turkish population differ from those in other normal populations. Three known polymorphisms but no other gene variants were detected in the PRNP coding sequence of the Turkish individuals. Genotype frequencies at codon 129 were 57% Met/Met, 34% Met/Val and 9% Val/Val, with an allele frequency of 0.740:0.260 Met:Val. These distributions are considerably different from those reported for other normal populations residing in Western Europe and East Asia, except in Crete. The higher frequency of 129 Met-homozygotes in Turkey than in Western Europe suggests that the Turkish are at greater risk of developing CID.