标题：葡萄糖脑苷脂酶基因多态性与帕金森病的相关性研究

      作者：司君增，魏丽萍，郭秀玲，宋方禹，亓勤德
    （莱芜市人民医院神经内科，山东 莱芜 271199）

      卷次： 2014年25卷7期

      【摘要】 目的 研究中国山东人群帕金森病患者的葡萄糖脑苷脂酶(Glucocerebrosidase，GBA)基因N370S、
V394L和L444P突变位点多态性，探讨GBA基因突变与帕金森病的相关性。方法 应用PCR产物直接DNA测
序法对60例帕金森病患者及60例正常对照组的9、10号外显子进行检测，然后进行测序对比分析。结果 测序
结果显示帕金森病患者和正常对照组的GBA基因外显子 9和外显子 10核苷酸序列完全一致，未发现突变
点。结论 该研究不支持 GBA基因N370S、V394L和L444P突变位点是中国山东人群帕金森病的危险因素。

      【关键词】 帕金森病；葡萄糖脑苷脂酶基因；基因突变

      【中图分类号】 R742.5 【文献标识码】 A 【文章编号】 1003—6350（2014）07—0944—03


Association between glucocerebrosidase genetic polymorphisms and Parkinson's disease.
SI Jun-zeng, WEI
Li-Ping, GUO Xiu-ling, SONG Fang-yu, QI Qin-de. Department of Neurology, Laiwu People's Hospital, Laiwu 271199,
Shandong, CHINA

【Abstract】 Objective To study the polymorphisms of Glucocerebrosidase (GBA) gene mutation sites
(N370S, V394L and L444P) in patients with Parkinson's disease in Shandong province of China, and to explore the re-
lationship between GBA gene and Parkinson's disease (PD). Methods Exon 9 and exon 10 of GBA gene were ampli-
fied the in 60 PD patients and 60 normal controls by polymerase chain reaction (PCR). PCR products were analyzed
by direct DNA sequencing. BLAST was used for sequences analysis. Results The sequence results demonstrated
that the nucleotide sequences of exon 9 and exon 10 of GBA gene in the patients of Parkinson's disease and normal
controls were the same, with no mutation found. Conclusion The GBA gene mutation sites (N370S, V394L and
L444P) may not be risk factors for PD in Chinese Shandong population.

      【Key words】 Parkinson's disease; Glucocerebrosidase gene; Gene mutation
·论 著·