Absence of Commonly Reported Leucine-Rich Repeat Kinase 2 Mutations in Eastern Indian Parkinson's Disease Patients

作者：Sanyal Jaya; Sarkar Biswanath; Ojha Sabyasachi; Banerjee Tapas Kumar; Ray Bidhan Chandra; Rao Vadlam Raghavendra^*

来源：Genetic Testing and Molecular Biomarkers, 2010, 14(5): 691-694.

DOI：10.1089/gtmb.2010.0054

Background: Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2; PARK8) encoding dardarin, implicated in patients with autosomal dominant and sporadic Parkinson's disease (PD) among different ethnic groups (Ashkenazi Jews, North African Arabs, Basques) might be of some help in diagnostic screening and genetic counseling. Aim of the Study: We investigated the seven common mutations spanning exons 31, 35, and 41 reported in the LRRK2 gene among Eastern Indian patients with PD. Methods: Mutations R1441G, R1441C, R1441H, G2019S, Y1699C, I2020T, and I2012T were screened in 320 individuals (PD, 150 and controls, 170) by direct sequencing. Results: We did not observe any of these abovementioned mutations in our studied individuals. Conclusion: We conclude that these mutations are rare causes of PD in the Eastern Indian population and, therefore, of little help for genetic counseling and diagnostic purposes.

• 出版日期2010-10