Cellular and molecular neurobiology · 2007
No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy.
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Tedde Andrea, Bagnoli Silvia, Cellini Elena, Nacmias Benedetta, Piacentini Silvia, Sorbi Sandro
Аннотация
AIMS: Investigation of the leucine-rich repeat kinase 2 (LRRK2) gene in late-onset Alzheimer's disease (AD) patients to screen for the G2019S mutation, which is common in Parkinson's cases.
METHODS: High-resolution melting analysis (HRMA) was used to screen a large sample of patients. The target sequence was amplified by standard PCR in the presence of an intercalating fluorescent dye. Heterozygotes were easily identified because the heteroduplexes produced changed the shape of the melting curve.
RESULTS: In accordance to previous studies, we did not detect the G2019S mutation in any of the 769 Italian AD patients under study.
CONCLUSIONS: HMRA allowed us to rapidly characterize a large number of samples for the LRRK2 G2019S mutation, which results as absent in a large AD data set.
METHODS: High-resolution melting analysis (HRMA) was used to screen a large sample of patients. The target sequence was amplified by standard PCR in the presence of an intercalating fluorescent dye. Heterozygotes were easily identified because the heteroduplexes produced changed the shape of the melting curve.
RESULTS: In accordance to previous studies, we did not detect the G2019S mutation in any of the 769 Italian AD patients under study.
CONCLUSIONS: HMRA allowed us to rapidly characterize a large number of samples for the LRRK2 G2019S mutation, which results as absent in a large AD data set.