Related Experiment Video
Updated: Jul 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy
Andrea Tedde1, Silvia Bagnoli, Elena Cellini
1Neurogenetics Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, Florence 50139, Italy. tedde@unifi.it
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.
Related Concept Videos
Alzheimer Disease l: Introduction
Alzheimer Disease ll: Pathophysiology
Alzheimer's Disease: Overview
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology

