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目的：探讨尿沉渣ＤＮＡ微卫星分析方法在中国人膀胱癌诊断中的应用价值。方法：首先选取分布于１８条染色体上的 ６０个微卫星位点对 ３８例膀胱肿瘤病人的尿沉渣和相应病理组织的 ＤＮＡ进行微卫星分析，寻找覆盖病人最多的位点组合；然后以此组合对４０例膀胱疾病病人和健康志愿者的尿沉渣进行了双盲分析，以验证此组合的特异性和可能的临床价值。结果：建立了一套由９个微卫星位点组成的诊断组合。 ５９例膀胱癌中， ８６％（３１／３６）的癌组织和９０％（５３／５９）的尿沉渣ＤＮＡ在这９个位点中至少有一个位点发生异常；１２例非膀胱肿瘤个体的尿沉渣ＤＮＡ无一例发生改变；检出率与肿瘤分期、分级无相关性；而且，该组合与美国人报道的组合明显不同。结论：作为一种无创伤性手段，尿沉渣ＤＮＡ微卫星分析对于膀胱癌的筛查和早期诊断具有一定意义；与美国报道的诊断组合的不同，反映了人种差异和可能的病因学差异。
Objective: To investigate the value of urinary sediment DNA microsatellite analysis in the diagnosis of bladder cancer in Chinese. Methods: Sixty microsatellite loci distributed on 18 chromosomes were selected for microsatellite analysis of urinary sediment and corresponding pathological tissue DNA from 38 patients with bladder cancer, looking for the most frequent site combinations covering the patients. Then, Urinary sediment from 40 patients with bladder disease and healthy volunteers was double-blind analyzed to verify the specificity and possible clinical value of this combination. Results: A set of nine microsatellite loci was established. Of the 59 cases of bladder cancer, 86% (31/36) of cancerous tissues and 90% (53/59) of urinary sediment DNA were abnormal in at least one of the 9 loci; in 12 non-bladder cancer individuals There was no change in urinary sediment DNA; the detection rate was not correlated with tumor stage and grade, and the combination was significantly different from that reported by the Americans. CONCLUSIONS: Urinary sediment DNA microsatellite analysis is of some significance as a noninvasive means of screening and early diagnosis of bladder cancer; it differs from the reported diagnostic combinations in the United States and reflects ethnic differences and possible etiologies.