Q-PCR determination of copy number.

Relative gene copy number analysis for amplicons across the KCNQ1 and flanking loci determined by Q-PCR. The heading KCNQ1OT1 refers to DNA within the KCNQ1OT1 region. The values shown are the ratio of the means of triplicate copy number determinations relative to the mean of the CFTR reference gene copy number. Deletion within the KCNQ1 locus is suggested by reduced copy number in the DNA from I-2, II-1, II-2 and III-1. Normal copy number is maintained in I-1.