Telomerase enzymatic activities expressed in primary blood cells from the representative patients and healthy individuals. Serial dilutions containing 1.0 μg, 0.5 μg, and 0.1 μg total protein, respectively, from cell lysates for each sample were tested (triangles). Lanes 1 to 9 are from a patient who carries the A117C, or C204, or G305A mutations, respectively. Lanes 10 to 12 are from an unrelated healthy control individual. Lane 13 shows a negative control in which 1 μg lysate from the healthy control sample was denatured at 95°C for 5 minutes prior to assay. (+) indicates PCR products amplified from a control TRS8 template provided in the kit (lane 14). “IC” indicates PCR products amplified from an internal control DNA template, which is used as internal control for PCR amplification efficiency in each reaction.