发育医学电子杂志 Vol. 1 140-143
围产医学
论著
｜产科
荧光染色体原位杂交方法建立及在 产前诊断中的应用
姜淑芳 高志英 卢彦平 付玉荣 马莹 李亚里
解放军总医院外科临床部妇产科，北京 100853
Establishment and clinical application of fluorescence in situ hybridization
JIANG Shu-fang,GA0 Zhi-ying,LU Yah-ping, et al
Department of Obstetrics and Gynecology,Clinical Division ofSurger；Chinese PLA General Hospital,Beijing 100853,China
摘要 【摘要】目的 建立并优化荧光染色体原位杂交方法，应用于陕速产前诊断21、18、13、x和Y染 色体数目异常。方法 常规穿刺取羊水或脐带血样本，经低渗、固定、制片、老化等操作过程，直接 利用21、18、13、x、Y染色体的特异性探针杂交，荧光显微镜下观察杂交信号，判断羊水或脐带血 细胞中2l、18、13、x和Y染色体的数目。结果 90％以上的细胞显示相应的荧光信号视为正常男 性或女性。136例羊水或脐血，检出21三体5例，18三体2例，性染色体异常(47，XYY)1例，与 染色体核型分析结果一致，均在72小时给出报告。结论 利用荧光染色体原位杂交方法进行产前诊 断，可快速提供准确的结果，具有诊断参考价值。
关键词:
荧光染色体原位杂交
产前诊断
染色体病
Abstract: 【Abstract】objectives To establish the method of fluorescence in situ hybridization，and evaluate the clinical significance in prenatal diagnosis．Methods Amniocytes or blood cells were obtained and processed， and FISH were performed with a panel of specific probes to detect abnormalities of chromosome 21，18，13，X， Y．Results It WaS considered as normal male or female that the fluorescence signals were observed in more than 90％cells．5 cases of Down syndrome，2 cases of transom 1 8 and 1 case of sex chromosomal abnormality were detected in 136 cases and test reports were sent in 72 hours．Conclusion FISH has important value in rapid prenatal diagnosis．
Key words:
Fluorescence in situ hybridization')" href="#">Fluorescence in situ hybridization
Prenatal diagnosis
Chromosomal abnormalities
收稿日期: 2013-02-15
出版日期: 2013-07-30
发布日期: 2019-09-06
期的出版日期: 2013-07-30
引用本文:
姜淑芳 高志英 卢彦平 付玉荣 马莹 李亚里. 荧光染色体原位杂交方法建立及在 产前诊断中的应用 [J]. 发育医学电子杂志, 2013, 1(3): 140-143.
Establishment and clinical application of fluorescence in situ hybridization . Journal of Developmental Medicine(Electronic Version), 2013, 1(3): 140-143.
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