Germline Allele-Specific Expression of DAPK1 in Chronic Lymphocytic Leukemia

@inproceedings{Wei2013GermlineAE,
  title={Germline Allele-Specific Expression of DAPK1 in Chronic Lymphocytic Leukemia},
  author={Q Wei and Rainer Claus and Thomas Hielscher and Daniel Mertens and Aparna Raval and Christopher C. Oakes and Stephan M. Tanner and Albert de la Chapelle and John C. Byrd and Stephan Stilgenbauer and Christoph Plass},
  booktitle={PloS one},
  year={2013}
}
We previously reported a rare germline variant (c.1-6531) that resulted in allele-specific expression (ASE) of death-associated protein kinase 1 (DAPK1) and predisposition to chronic lymphocytic leukemia (CLL). We investigated a cohort of CLL patients lacking this mutation for the presence of ASE of DAPK1. We developed a novel strategy that combines single-nucleotide primer extension (SNuPE) with MALDI-TOF mass spectrometry, and detected germline DAPK1 ASE in 17 out of 120 (14.2%) CLL patients… CONTINUE READING
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