title: Nurr1 mutational screen in Parkinson's disease.
abstract: We performed sequence analysis of all the exons and exon-intron boundaries in familial and young-onset Parkinson's disease (PD) in an Asian cohort. None of the patients carried any pathogenic mutations in the Nurr1 gene. We demonstrated a 5 to 10% prevalence of the intron 7 +33 C-->T variant among Malay and Indian PD and healthy controls, suggesting that this variant, which was previously described only in 1 Chinese patient, was not a silent mutation but a common polymorphic variant in some ethnic races.
authors.affiliation: Division of Research, SingHealth, Singapore. gnrtek@sgh.com.sg
authors.forename: Eng-King
authors.initials: EK
authors.lastname: Tan
authors.forename: Henry
authors.initials: H
authors.lastname: Chung
authors.forename: Vandana R
authors.initials: VR
authors.lastname: Chandran
authors.forename: Chris
authors.initials: C
authors.lastname: Tan
authors.forename: Hui
authors.initials: H
authors.lastname: Shen
authors.forename: Kenneth
authors.initials: K
authors.lastname: Yew
authors.forename: Ratnagopal
authors.initials: R
authors.lastname: Pavanni
authors.forename: Kathi-avelu
authors.initials: KA
authors.lastname: Puvan
authors.forename: Meng-Cheong
authors.initials: MC
authors.lastname: Wong
authors.forename: Mei-Lin
authors.initials: ML
authors.lastname: Teoh
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yih
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhao
mesh_terms: D000328:Adult; D017668:Age of Onset; D001208:Asia / Q000208:ethnology; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D010300:Parkinson Disease / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D015995:Prevalence; D014157:Transcription Factors / Q000235:genetics*; D006113:United Kingdom
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C539882:NR4A2 protein, human; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D014157:Transcription Factors