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. 2014 Aug 22;17(1):68–73. doi: 10.4103/1008-682X.136441

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Copyright: © Asian Journal of Andrology

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Multiplex ligation-dependent probe amplification (MLPA) analysis of DPY19L2 exons 1, 17 and 22. The probe set contained three control probes for normalization purposes (c1, c2, c3) and three specific DPY19L2 probes (X1, X17 and X22) corresponding to exons 1, 17 and 22 of DPY19L2, respectively. Lane 1: MLPA profile of a normal DNA sample (control). Lane 2: MLPA profile of a patient with a homozygous deletion, showing a total absence of DPY19L2 exon signals. Lane 3: MLPA profile of a patient with a heterozygous deletion, showing a halving of the intensity of the DPY19L2 signals.