自然流产组织染色体异常的FISH技术检测  

DETECTION OF CHROMOSOME ABERRATIONS IN SPONTANEOUS ABORTION BY FISH ANALYSIS

作　　者：路兴军[1] 俞冬熠 李朔 王修海[1] 王培林[1] 

机构地区：[1]青岛大学医学院医学遗传学教研室,山东青岛266021 [2]青岛市妇女儿童医院

出　　处：《青岛大学医学院学报》2012年第3期250-252,共3页Acta Academiae Medicinae Qingdao Universitatis

基　　金：中华医学会分子生物学临床应用研究专项资金(CAMB012010)

摘　　要：目的探讨常规染色体核型分析和荧光原位杂交(FISH)技术在检测自然流产组织染色体非整倍体畸变中的应用价值。方法对自然流产组织细胞培养后,进行染色体G显带核型分析;应用13、16、18、21、22、X和Y染色体区域特异性探针,对107例自然流产组织进行FISH技术检测;对上述两种方法检测结果比较分析。结果107例标本中仅76例培养成功可进行核型分析,可检测率为71.03%;107例标本全部可进行FISH技术检测,可检测率为100.00%,两者比较差异有显著性(χ2=36.25,P<0.05)。107例自然流产标本异常率为46.73%,核型分析检测出异常35例,FISH技术检测出异常48例,两者检测结果一致率为96.05%。结论 FISH技术与常规染色体核型分析检测结果一致;FISH技术检测具有快速、准确的特点,同时由于FISH技术可分析大量的间期核,有利于嵌合体的诊断。Objective To assess the value of conventional karyotype analysis and FISH in detecting chromosome aberra- tions in spontaneous abortion materials. Methods G-banding karyotype analysis was carried out after cell culture of spontaneous abortion tissue. The interphase nuclei of 107 abortion tissue were detected by FISH using original DNA probes for chromosomes 13, 16, 18, 21, 22, X and Y, the results of FISH were compared between the two methods. Results Only 76 samples in 107 cases were successfully cultured and G-banding karyotype analysis was conducted, the detection rate being 71. 03%. For FISH technique, all the 107 cases could be done, with 100.00% detection rate. The difference between the two methods was significant （χ2=36. 25,P〈0.05）. In 107 cases of spontaneous abortion, the abnormal samples accounted for 46.73%, 35 cases were abnor real detected by G-handing, and 48 by FISH, the concordance rate of detection result of the two methods being 96.05%. Conclusion The detection results of FISH are consistent with the findings of conventional chromosome analysis, but FISH has charac teristics of fast and presice, and can be used to analyse massive interphase nuclei, which is in favour of chimeric diagnosis.

关 键 词：原位杂交 荧光 染色体畸变 流产 自然 核型分析 

分 类 号：R714.21[医药卫生—妇产科学]