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目的:通过比较传统的细胞遗传学法与荧光原位杂交技术(FISH)在流产绒毛组织染色体检测中的差异,探讨两种方法在流产绒毛组织染色体分析中的应用价值。方法:选取2010年8月28日~12月2日因自然流产到该院优生遗传门诊、妇科病房行清宫手术的94例患者为研究对象,采用13、16、18、21、22、X和Y染色体特异性DNA探针对94例早期流产绒毛标本进行FISH检测,同时进行细胞培养和染色体核型分析。结果:FISH检测成功率为100.0%(94/94),传统细胞遗传学法检测成功率为91.5%(86/94)。传统细胞遗传学分析成功的86例中,74例结果与FISH结果相符,另外检出12例FISH探针所不能覆盖的染色体异常;培养失败的8例标本中,FISH检出5例异常。FISH异常检出率为48.9%,细胞遗传学法异常检出率为60.5%。结论:FISH与细胞遗传学法均具有其各自的优点和局限性,应根据流产绒毛标本实际情况选择合适的检测方法,确保检测的成功率和结果的准确率。
OBJECTIVE: To compare the differences of chromosomal detection of abortion chorionic villus tissue between traditional cytogenetics and fluorescence in situ hybridization (FISH), and to explore the value of the two methods in chromosomal analysis of abortion chorionic tissue. Methods: From August 28, 2010 to December 2, 2010, 94 patients with gynecological ward who underwent ectopic endometrial abortion due to spontaneous abortion were enrolled in this study. The patients were treated with 13, 16, 18, 21, 22, Y chromosome specific DNA probe 94 cases of early abortion villi specimens were detected by FISH, cell culture and karyotype analysis. Results: The success rate of FISH was 100.0% (94/94). The success rate of traditional cytogenetics was 91.5% (86/94). Of the 86 cases with successful cytogenetic analysis, 74 were consistent with FISH results and 12 were abnormal with chromosomal abnormalities that FISH probes could not cover. Of the 8 cases with failed FISH, 5 were found abnormal by FISH. FISH abnormality detection rate was 48.9%, cytogenetics anomaly detection rate was 60.5%. Conclusion: FISH and cytogenetics all have their own advantages and limitations. According to the actual situation of abortion samples, appropriate testing methods should be selected to ensure the success rate of testing and the accuracy of the results.