高加索帕金森病患者中的G309D和W437OPA PINK1突变
G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.
作者信息
Deng H, Le W D, Zhang X, Pan T H, Jankovic J
机构信息
Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030, USA.
出版信息
Acta Neurol Scand. 2005 Jun;111(6):351-2. doi: 10.1111/j.1600-0404.2005.00383.x.
OBJECTIVE
To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD).
METHODS
We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients.
RESULTS
None of the 237 samples showed the G309D or W437OPA mutations.
CONCLUSIONS
The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.
目的
确定帕金森病（PD）美国白种人患者中是否存在PINK1基因的G309D和W437OPA突变。
方法
我们通过对237名无亲缘关系的白种人患者的PINK1基因感兴趣区域进行测序，来寻找G309D和W437OPA突变。
结果
237个样本中均未显示G309D或W437OPA突变。
结论
PINK1基因的G309D和W437OPA突变可能不是白种人群体中家族性或散发性PD的常见病因。
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