Pchelina Sofya N, Yakimovskii Andrei F, Ivanova Olga N, Emelianov Anton K, Zakharchuk Andrei H, Schwarzman Alexander L
Petersburg Nuclear Physics Institute, RAS, St. Petersburg, Russia.
Mov Disord. 2006 Dec;21(12):2234-6. doi: 10.1002/mds.21134.
Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group.
在与常染色体显性和散发性帕金森病（PD）相关的突变中，富含亮氨酸重复激酶2（LRRK2）基因中的G2019S替代是最常被发现的。为了评估其在俄罗斯的发生率，我们分析了来自俄罗斯西北地区的208例帕金森病患者。其中，51例患者是来自符合常染色体显性遗传的帕金森病家族的先证者。对照组为来自同一地区的161名无神经系统疾病的受试者。G2019S突变在家族性帕金森病中的发生率（51例中有2例[3.9%]）高于散发性帕金森病（157例中有1例[0.6%]）。此外，在一个帕金森病家族中，该突变在一名也患有帕金森病的先证者父亲身上被发现，在另一个帕金森病家族中，一名40岁无帕金森病体征的携带者身上也发现了该突变。所有携带者均为G2019S突变的杂合子，且均有阿什肯纳兹犹太血统。在对照组中未发现该突变。
