| 荧光原位杂交技术在产前染色体疾病诊断中的应用性研究 |
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| 引用本文： | 冀小平,王晓华,董弘,周燕,朱博. 荧光原位杂交技术在产前染色体疾病诊断中的应用性研究[J]. 中国妇幼保健, 2010, 25(4) |
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| 作者姓名： | 冀小平 王晓华 董弘 周燕 朱博 |
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| 作者单位： | 内蒙古自治区妇幼保健院遗传科,内蒙古,呼和浩特,010020 |
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| 基金项目： | 国家卫生部科研基金课题(WKJ2007232001) |
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| 摘 要： | 目的:优化荧光原位杂交技术(FISH)检测未经培养羊水细胞的方法学平台,规范操作程序,探讨荧光原位杂交技术在检测胎儿染色体数目异常的临床诊断中的临床应用价值。方法:收集适合进行产前诊断的羊水标本25 ml,取5 ml进行FISH(13、21、18、X、Y)检测;同时将20 ml羊水细胞进行细胞培养,收获后制片,常规进行染色体核型分析。结果:应用FISH检测技术,共检测90例标本。均获得诊断结果,检测出1例非整倍体,1例46,XX/46,XY嵌合体,FISH检测标本均能在24～48 h内出结果。FISH结果与核型分析结果一致。结论:FISH技术具有实验方法稳定,结果准确可靠,需用标本量少等特点,因此在临床上有很高的应用价值。
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| 关 键 词： | 荧光原位杂交技术 产前诊断 染色体疾病 |
Analysis on application of fluorescence in situ hybridization in prenatal diagnosis of chromosomal disease |
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| JI Xiao-Ping,WANG Xiao-Hua,DONG Hong et al. Analysis on application of fluorescence in situ hybridization in prenatal diagnosis of chromosomal disease[J]. Maternal and Child Health Care of China, 2010, 25(4) |
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| Authors: | JI Xiao-Ping WANG Xiao-Hua DONG Hong et al |
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| Affiliation: | JI Xiao-Ping,WANG Xiao-Hua,DONG Hong et al.Department of Genetics,Maternal , Child Health Hospital of Inner Mongolia,Huhhot 010020,Inner Mongolia,China |
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| Abstract: | Objective:To optimize the method of fluorescence in situ hybridization(FISH) in detection of uncultured amniotic fluid cells,explore the clinical application value of FISH in detection of fetal numerical abnormalities of chromosomes.Methods:25 ml of amniotic fluid was collected for prenatal diagnosis,5 ml was used for FISH detection(13,21,18,X and Y);20 ml was used for cell culture,then karyotype analysis of chromosome was conducted.Results:90 cases were detected,1 case of aneuploid and 1 case of 46,XX/46,X... |
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| Keywords: | Fluorescence in situ hybridization Prenatal diagnosis Chromosomal disease |
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