Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease
JA Ruskey, L Greenbaum, L Roncière, A Alam… - European journal of …, 2019 - Elsevier
Background Variants in GBA are the most common genetic risk factor for Parkinson's
disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population.
However, most studies on GBA in AJ genotype only seven selected Gaucher-associated
pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-
associated GBA variants undiscovered. Methods GBA was fully sequenced using molecular
inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls …
disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population.
However, most studies on GBA in AJ genotype only seven selected Gaucher-associated
pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-
associated GBA variants undiscovered. Methods GBA was fully sequenced using molecular
inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls …
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