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KMID : 0381120160380020163
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Genes and Genomics
2016 Volume.38 No. 2 p.163 ~ p.169
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PARK2 gene variants in Korean patients with Parkinson’s disease
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Park Min-Young
Park In-Won
Ihm Chun-Hwa
Kim Eun-Hee
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Abstract
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Mutations in PARK2 are considered a common cause of Parkinson’s disease (PD). To assess the frequency of PARK2 mutations in the Korean population, we screened the PARK2 gene in 83 Korean PD patients: two young onset (YO, ≤ 49), 32 middle onset (MO, 50?69) and 49 late onset (LO, ≥ 70). Detection of the point mutations was performed by direct sequencing of the PARK2 exons, and exonic rearrangements were analyzed using multiplex ligation-dependent probe amplification. Five known PARK2 variants were identified in 53 (63.9 %) of the Korean PD patients: two missense mutations (Y267H and M458L) and three polymorphisms (S167N, L272I and V380L). We also found an increased frequency of PARK2 variants in PD patients and a lowered PD age at onset (AAO) in those having two variants, suggesting that the genetic variation in PARK2 gene might be a genetic risk factor of PD in Korean population.
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KEYWORD
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Parkinson’s disease, PARK2, Variant, Korean PD patients
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