title: [M129V PRNP gene polymorphism in Castilla y León shows a similar distribution to other Spanish regions and other European countries].
abstract: OBJECTIVE
  It has been reported that the polymorphism M129V in the PRNP gene modifies the phenotype in all the subtypes of prion diseases in humans. All cases diagnosed to date as suffering the human variant of mad cow disease (vCJD) carry the allele 129M. In the last five years five cases of vCJD have been reported in Spain, three of them in Castilla y León (in western Spain). Observation of differences in the genotypic frequency of this polymorphism in different populations prompted us to analyze the distribution of genotypes of the V129M polymorphism in a population from Castilla y León to determine if there is an increased risk to develop vCJD in this region of Spain.
  
  
  METHODS
  We studied the coding region of the PRNP gene containing codon 129 in 110 healthy individuals from Castilla y León. We amplified the DNA by PCR and allelic discrimination was performed after digestion with restriction enzyme NspI. Comparison between groups was performed by X(2) test.
  
  
  RESULTS
  Our results show a distribution of genotypes of the V129M polymorphism in the population from Castilla y León which is similar to other Spanish and European populations.
  
  
  CONCLUSIONS
  From the genetic point of view, the risk of people from Castilla y León to suffer vCJD should be similar to that of the other Spanish regions.
authors.affiliation: Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, Salamanca, España.
authors.forename: Andrés
authors.initials: A
authors.lastname: Castellanos
authors.forename: Marta
authors.initials: M
authors.lastname: Pérez Prieto
authors.forename: Javier
authors.initials: J
authors.lastname: Castrodeza
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Mirón Canelo
authors.forename: Rogelio
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005060:Europe; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D013030:Spain
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions