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

我们用Q-FISH技术研究了Werner综合征(WS)患者和正常人成纤维细胞的端粒代谢和端粒长度。我们收集了7例Werner综合征患者的组织标本，其中2例来自同一患者不同日期的组织标本。收集6例原代培养的成纤维细胞。方法1.对6例WS患者的成纤维细胞进行核型分析。易位的高频率与特定的染色体有关。6例WS中3例成纤维细胞平均端粒长度分别为10.1kBP、5.0kBP和6.1kBP。3例WS.5携带WS基因的染色体端粒长度与其他染色体的端粒长度无明显差异。我们测量了其他早衰症患者(唐氏综合征和18三体，n=21)患者淋巴细胞的端粒长度，三体染色体的端粒长度与其他染色体的端粒长度相比并不明显。用Q-FISH方法测量表皮端粒长度时，由于细胞质中的黑色素和黑素小体的存在，无法获得恒定的数据。黑色素消化后，端粒测量结果良好。

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.