Telomere phenotype in patients' fibroblasts. (A) Telomere length determined by TRF in primary fibroblasts from 2 healthy controls and patients P1 and P2. Population doubling is indicated in brackets. (B) Representative pictures of normal chromosomes and chromosomes with the indicated telomeric aberrations detected by FISH. (C) Quantitative analysis of telomeric aberrations detected by FISH in SV40-transformed fibroblasts from 2 age-matched healthy controls and P1 and P2 at similar passages (from passage 3 to 8). Ctl1 fibroblasts are from a healthy male individual, and Ctl2 are from a healthy female individual). Results from 5 independent experiments for P1 and 2 for P2 (counted chromosomes: Ctl1: n = 1,945; Ctl2: n = 1,462; P1: n = 3,325; P2: n = 2,631). Averages are shown and χ2 tests were applied to compare Ctls with either P1 or P2. *P < .05, **P < .01, ***P < .001, ****P < .0001.
