Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR
Dot plot for the markers which were analyzed in the study of monosomy 1p36: (a) PRKCZ and (b) SKI. (fold copy number change) values of the 50 normal controls and of the 39 patients with monosomy 1p36 were considered for construction of the dot plot. The threshold value (Thres) is shown inside of each graph. On the horizontal axis (Diagnosis), the number 0 represents the negative group (normal controls) and the number 1 represents the positive group. Each individual is represented by a circle within the graph. The horizontal line within the graph indicates the threshold value, which corresponds to the value chosen as limit of separation between the two groups. result obtained for patient 11 is indicated by a black arrow in both graphs. This patient does not have deletion of SKI (), but he presents hemizygous deletion of PRKCZ (), confirming that he has monosomy 1p36. Equal results were previously obtained by MLPA. The simultaneous use of these two genes in the qPCR assays resulted in a test with 100% sensitivity and 100% specificity. The graphs were obtained using MedCalc software, version 12.2.1 (MedCalc Software, Mariakerke, Belgium).
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