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Nurr1 mutational screen in Parkinson's disease
Author(s) -
Tan EngKing,
Chung Henry,
Chandran Vandana R.,
Tan Chris,
Shen Hui,
Yew Kenneth,
Pavanni Ratnagopal,
Puvan Kathiavelu,
Wong MengCheong,
Teoh MeiLin,
Yih Yuan,
Zhao Yi
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20246
Subject(s) - exon , malay , genetics , parkinson's disease , intron , mutation , gene , cohort , biology , ethnic chinese , disease , sequence (biology) , medicine , ethnic group , political science , linguistics , philosophy , law
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