Disease Markers / 2014 / Article / Tab 3

Research Article

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

Table 3

Overview of the qPCR markers results.

Sample typesMarker

Normal controlsPRKCZ 50−0.06120.1554−0.05330.3551−0.3661
SKI 50−0.12640.1401−0.15140.1956−0.3794

Positive groupPRKCZ 39−0.96960.1649−0.9634−0.6676−1.2644
SKI 39−1.02870.2880−1.0710−0.2876a−1.5803

: fold copy number change; : sample size; SD: standard deviation.
results (expressed as mean   ± SD) consistent with the loss of one allelic copy are indicated in bold.
result obtained for patient 11 (subject 11 of Supplementary Table  2), indicative of nondeletion of SKI gene. This patient presented hemizygosity of PRKCZ ( ), confirming that he has monosomy 1p36. Equal results were obtained by MLPA (data not shown). The remaining 38 patients had results corresponding to hemizygous microdeletion of SKI (−0.5479 to −1.5803) and PRKCZ (−0.6676 to −1.2644).

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