High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.

@article{Wang2013HighresolutionSI,
  title={High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.},
  author={Liyong Wang and Karen Nuytemans and G Bademci and Cherylyn Jauregui and Eden R. Martin and William K. Scott and Jeffery M. Vance and Stephan Zuchner},
  journal={Human mutation},
  year={2013},
  volume={34 8},
  pages={1071-4}
}
A high density comparative genomic hybridization array was designed to evaluate CNVs in the genomic region of six familial PD genes in 181 PD cases and 67 controls. No CNV was found in PARK7, ATP13A2, PINK1, and LRRK2. Intronic-only CNVs were found in SNCA and PARK2 but were not associated with PD risk. A whole-gene duplication of SNCA was found in one case. The allele frequency of PARK2 exonic CNV is significantly higher in cases than in controls (P = 0.02), higher in early-onset (AAO ≤ 40… CONTINUE READING
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