Nurr1 mutational screen in Parkinson's disease.
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.
Tan
Eng-King
EK
Division of Research, SingHealth, Singapore. gnrtek@sgh.com.sg
Chung
Henry
H
Chandran
Vandana R
VR
Tan
Chris
C
Shen
Hui
H
Yew
Kenneth
K
Pavanni
Ratnagopal
R
Puvan
Kathi-avelu
KA
Wong
Meng-Cheong
MC
Teoh
Mei-Lin
ML
Yih
Yuan
Y
Zhao
Yi
Y
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
D017931:DNA Primers; D004268:DNA-Binding Proteins; C539882:NR4A2 protein, human; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D014157:Transcription Factors