Analysis of telomere metabolism according to each chromosome in living patients with Werner syndrome using the FISH method

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We studied telomere metabolism and telomere length in fibroblasts from patients with Werner syndrome (WS) and normal control individuals by Q-FISH using metaphase spreads and tissue sections. We collected tissue samples from 7 cases of Werner syndrome Two of 9 tissue samples were obtained from the same patients on different dates. Primary cultured fibroblasts were also collected from 6 cases.1. Karyotype analysis was completed for fibroblasts from 6 cases of WS.2. A high frequency of translocation was associated with specific chromosomes.3. Mean telomere lengths for fibroblasts in 3 of the 6 WS cases were 10.1 kbp, 5.0 kbp, and 6.1 kbp, respectively.4. Telomere length of the chromosome bearing the WS gene was not significantly shorter than that for other chromosomes in 3 cases of WS.5. We measured telomere lengths of lymphocytes from patients with other progeria syndromes (Down's syndrome and 18 trisomy, n = 21) , and telomeres of trisomy chromosomes were not significantly shorter than those of other chromosomes.6. Telomere length measurement in the epidermis by Q-FISH method was prevented from obtaining constant date by cytoplasmic melanin and melanosomes. After digestion of melanin, we were able to obtain good results of telomere measurement.