title: Genotype frequencies at codon 129 of the prion protein gene in Brazil: Implications in susceptibility to variant Creutzfeldt-Jakob disease compared to European and Asian populations.
abstract: A polymorphism at codon 129 of the prion protein gene has been shown to confer genetic susceptibility to prion diseases, and to influence the epidemic course of variant Creutzfeldt-Jakob disease. We employed a PCR-endonuclease digestion-based assay to investigate this genetic trait in Brazil, and then compared our results to previously published data from several European and Asian countries.
authors.affiliation: Haematology and Haemotherapy Centre, State University of Campinas, Rua Carlos Chagas 480, CEP 13083-970 Campinas, SP, Brazil.
authors.forename: Erich Vinicius
authors.initials: EV
authors.lastname: de Paula
authors.forename: Marcelo
authors.initials: M
authors.lastname: Addas-Carvalho
authors.forename: Devanira Souza Paixao
authors.initials: DS
authors.lastname: Costa
authors.forename: Sara Terezinha Olalla
authors.initials: ST
authors.lastname: Saad
authors.forename: Simone Cristina Olenscki
authors.initials: SC
authors.lastname: Gilli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D001938:Brazil; D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D007199:Indians, South American / Q000235:genetics; D008875:Middle Aged; D010446:Peptide Fragments / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics*; D019655:Quantitative Trait, Heritable; D044465:White People / Q000235:genetics
chemical_list: D003062:Codon; D010446:Peptide Fragments; D011328:Prions; C417024:prion protein (127-147)