A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease.
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.
Morino
H
H
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
Kawarai
T
T
Izumi
Y
Y
Kazuta
T
T
Oda
M
M
Komure
O
O
Udaka
F
F
Kameyama
M
M
Nakamura
S
S
Kawakami
H
H
D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D050483:Dopamine Plasma Membrane Transport Proteins; D019075:Electrophoresis, Capillary; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational
D002352:Carrier Proteins; D050483:Dopamine Plasma Membrane Transport Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins