用荧光原位杂交技术快速诊断100例早期自然流产胚胎染色体数目异常  

Rapid diagnosis of chromosomes abnormalities in 100 embryos by fluorescence in situ hybridization technique

作　　者：王波[1] 宋婕萍[1] 王维鹏[1] 姚妍怡[1] 徐淑琴[1] 郭淮[1] 夏炎枝[2] 

机构地区：[1]湖北省妇幼保健院检验遗传中心,湖北武汉430071 [2]华中科技大学生命科学与技术学院,湖北武汉430074

出　　处：《中国优生与遗传杂志》2011年第12期38-40,共3页Chinese Journal of Birth Health & Heredity

基　　金：2010年卫生部课题;编号CAMBO121010

摘　　要：目的探讨荧光原位杂交(FISH)技术用于诊断绒毛间期细胞染色体数目异常的临床应用价值。方法采用FISH技术对我院100例50-84天的流产绒毛进行7条染色体(13、16、18、21、22、X和Y)的快速检测。同时,将绒毛接种、培养,进行常规细胞染色体核型分析,作为FISH检测结果的对照。结果被检测的100例样本中,用FISH检测,均获得诊断结果,检测成功率为100%,而常规细胞染色体核型分析,则只有91例获得诊断结果,检测成功率为91%。FISH检测结果与常规细胞染色体核型分析结果均相符合。结论应用FISH技术检测未培养绒毛间期细胞染色体数目异常,具有快速,简便,使用样本量少等优势,具有一定的临床应用价值。Objective： To investigate the clinical value of fluorescence in situ hybridization （FISH） in chromosomes abnormalities of villus samples from the embryos for rapid prenatal diagnant. Methods： Using chromose -specific DNA probes of 13, 16, 18, 21, 22, X and Y, the chorionic villi from 100 abortive women were detected by FISH. The routine analysis of amniotic cell karyotypes served as parallel diagnosis was performed at same time. Results ： Of all the samples, 100 samples were successfully tested by FISH, the rate of successful detection was 100%. In chromosome karyotypes analysis, 91 samples were achieved since failed cell culture oc- curred in 9 cases. The rate of successful detection was 91%. The results of FISH and those of cytogenetic karyotype analysis all matched. Conclusion： FISH technology used in prenatal diagnosis on chromosomal abnormalities in uncultured villous cells showed the following advantages, such as highly efficient, low cost, and small amounts of samples needed, so this technology holds an important clinicalvalue in the field of prenataldiagnosis.

关 键 词：绒毛细胞 荧光原位杂交 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]