在非希腊和/或意大利人群的帕金森病家族病例中未检测到α-突触核蛋白基因的G209A突变。
The G209A mutation in the alpha-synuclein gene is not detected in familial cases of Parkinson disease in non-Greek and/or Italian populations.
作者信息
Wang W W, Khajavi M, Patel B J, Beach J, Jankovic J, Ashizawa T
机构信息
Veterans Affairs Medical Center, Department of Neurology, Baylor College of Medicine, Houston, Tex 77030, USA.
出版信息
Arch Neurol. 1998 Dec;55(12):1521-3. doi: 10.1001/archneur.55.12.1521.
OBJECTIVE
To determine whether the G-to-A substitution at nucleotide 209 (G209A) mutation in the alpha-synuclein gene is responsible for familial Parkinson disease (PD) in the US population.
DESIGN
Polymerase chain reaction-based DNA analysis of consecutive patients with PD and family history of PD.
SETTING
A university-affiliated movement disorder clinic and a Veterans Affairs clinical research laboratory.
PATIENTS
Forty-four patients with PD and family history of PD and 29 patients with sporadic PD, all with no known Greek and/or Italian background.
RESULTS
None of the DNA samples showed the G209A mutation.
CONCLUSION
The G209A mutation is rare in US patients with familial PD.
目的
确定α-突触核蛋白基因第209位核苷酸的G到A替换（G209A）突变是否与美国人群中的家族性帕金森病（PD）相关。
设计
对有PD及PD家族史的连续患者进行基于聚合酶链反应的DNA分析。
地点
一所大学附属医院的运动障碍诊所和一个退伍军人事务临床研究实验室。
患者
44例有PD家族史的PD患者和29例散发性PD患者，所有患者均无已知的希腊和/或意大利背景。
结果
所有DNA样本均未显示G209A突变。
结论
G209A突变在美国家族性PD患者中罕见。
Zotero 插件