title: Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease.
abstract: In this report, we evaluated the allele frequency of the D/N394 single nucleotide polymorphism (SNP) in exon 11 of the parkin gene in 200 Japanese patients with sporadic Parkinson's disease (PD) and 200 normal controls. Although the reported allele frequency of G-to-A (D/N394) is 2% in Caucasians, this SNP was not detected in Japanese patients and healthy controls. Evaluation of L/I272 polymorphism, a C-to-A transition in exon 7, showed the polymorphism in only six controls, but not in PD patients. Our results suggest that the frequencies of parkin polymorphisms are different among Asians and Caucasians.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, 113-8421, Tokyo, Japan.
authors.forename: Xiaobing
authors.initials: X
authors.lastname: Li
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kitami
authors.forename: Mei
authors.initials: M
authors.lastname: Wang
authors.forename: Yoshikuni
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
mesh_terms: D000483:Alleles; D044466:Asian People; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D005006:Ethnicity; D005091:Exons; D005260:Female; D005843:Geography; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D044465:White People
chemical_list: D004247:DNA; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein