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.
2004 Movement Disorder Society.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Asia / ethnology
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DNA Mutational Analysis
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DNA Primers / genetics
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DNA-Binding Proteins / genetics*
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Genotype
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Humans
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Introns
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Mass Screening / methods*
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Middle Aged
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Nuclear Receptor Subfamily 4, Group A, Member 2
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Parkinson Disease / diagnosis
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Parkinson Disease / ethnology*
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Parkinson Disease / genetics*
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Point Mutation*
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Polymorphism, Genetic / genetics
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Prevalence
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Transcription Factors / genetics*
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United Kingdom
Substances
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DNA Primers
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DNA-Binding Proteins
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NR4A2 protein, human
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Nuclear Receptor Subfamily 4, Group A, Member 2
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Transcription Factors