LRRK2 lokuslarındaki genetik değişkenliğin evrimi

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Abstract Leucine-rich repeat kinase 2 (LRRK2) c.6055G>A (p.G2019S) is a frequent cause of Parkinson’s disease (PD) accounting for >30% of Tunisian Arab-Berber patients. LRRK2 is widely expressed in the immune system and its kinase activity confers a survival advantage from infection in animal models. Here we assess haplotype variability in cis and in trans of the LRRK2 c.6055G>A mutation, define the age of the pathogenic allele, explore its relationship to age of disease onset (AOO), and provide evidence for its positive selection.

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