Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.

ABSTRACT:

Background

In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients and their family caregivers for better management of their life according to disease's evolution.

Methods

In our study, a genetic PD's diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. We investigated G2019S's frequency in 250 Tunisian PD patients and 218 controls.

Results

We found that 33.6% of patients and 1.3% of controls were carriers. Demographic characteristics of patients with G2019S

SUBMITTER: Landoulsi Z 

PROVIDER: S-EPMC5501550 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature