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A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease
Author(s) -
Morino Hiroyuki,
Kawarai Toshitaka,
Izumi Yuishin,
Kazuta Toshinari,
Oda Masaya,
Komure Osamu,
Udaka Fukashi,
Kameyama Masakuni,
Nakamura Shigenobu,
Kawakami Hideshi
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200004)47:4<528::aid-ana20>3.0.co;2-r
Subject(s) - dopamine transporter , exon , parkinson's disease , dopamine , single nucleotide polymorphism , gene , genetics , transporter , polymorphism (computer science) , biology , disease , genotype , medicine , endocrinology
We identified two polymorphisms out of all coding regions of the dopamine transporter gene. One existed in exon 9 (1215A/G) and another in exon 15 (1898T/C). The 1215G was significantly less frequent among patients with Parkinson's disease than the controls. Although the polymorphism caused no amino acid substitution, we concluded that it was associated with decreasing the susceptibility to Parkinson's disease through mechanisms other than the protein function of dopamine transporter. Ann Neurol 2000;47:528–531.