title: Polymorphisms of the prion protein gene (PRNP) in a Serbian population.
abstract: Prion diseases are a group of etiologically heterogeneous neurodegenerative disorders. We have analyzed the coding region of PRNP gene in 121 healthy citizens of Serbia to determine whether the frequencies of M129V, E219K, and octapeptide repeat number polymorphism. For Serbian population, polymorphism of PRNP gene at codon 129 does not differ from healthy European populations. Also codon 219 is monomorphic for the Glu allele both in Serbian population and other European populations. On the contrary, in Serbian population we did not detect any deletions or insertions in octapeptide repeat region, whereas deletions were detected in other European populations.
authors.affiliation: Faculty of Biology, University of Belgrade, Belgrade, Serbia.
authors.forename: Rajna
authors.initials: R
authors.lastname: Dimitrijević
authors.forename: Ivana
authors.initials: I
authors.lastname: Cadez
authors.forename: Milica
authors.initials: M
authors.lastname: Keckarević-Marković
authors.forename: Dusan
authors.initials: D
authors.lastname: Keckarević
authors.forename: Miljana
authors.initials: M
authors.lastname: Kecmanović
authors.forename: Valerija
authors.initials: V
authors.lastname: Dobricić
authors.forename: Dusanka
authors.initials: D
authors.lastname: Savić-Pavićević
authors.forename: Goran
authors.initials: G
authors.lastname: Brajusković
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D016254:Mutagenesis, Insertional; D009842:Oligopeptides / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D017096:Prion Diseases / Q000208:ethnology / Q000235:genetics; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D020449:Repetitive Sequences, Amino Acid / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D055771:Serbia / Q000208:ethnology
chemical_list: D009842:Oligopeptides; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D018698:Glutamic Acid; D008239:Lysine