多巴胺转运体基因的单核苷酸多态性与帕金森病相关。

A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease.

作者信息

Morino H, Kawarai T, Izumi Y, Kazuta T, Oda M, Komure O, Udaka F, Kameyama M, Nakamura S, Kawakami H

机构信息

Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.

出版信息

Ann Neurol. 2000 Apr;47(4):528-31.

PMID:10762168

Abstract

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.

摘要

我们在多巴胺转运体基因的所有编码区域中鉴定出两个多态性位点。一个存在于外显子9（1215A/G），另一个存在于外显子15（1898T/C）。与对照组相比，帕金森病患者中1215G的频率显著更低。尽管该多态性未导致氨基酸替换，但我们得出结论，它通过多巴胺转运体蛋白质功能以外的机制降低了患帕金森病的易感性。