荧光原位杂交技术在产前诊断染色体疾病中的应用  

Application of Fluorescence in Situ Hybridization on Prenatal Diagnosis of Chromosomes Disease

作　　者：徐两蒲[1] 黄海龙[1] 林元[1] 彭淑华[1] 何德钦[1] 李英[1] 林娜[1] 刘合焜[2] 

机构地区：[1]福建省妇幼保健院产前诊断中心,福州350001 [2]福建医科大学细胞生物学与遗传学系,福州350001

出　　处：《海峡预防医学杂志》2010年第2期1-3,F0003,共4页Strait Journal of Preventive Medicine

基　　金：卫生部科研基金课题(No.J2007-3-001);福建省科技厅重点项目(No.2007Y0011);卫生部科学研究基金-福建省卫生教育联合攻关计划资助项目(No.WKJ2008-2-58)

摘　　要：[目的]探讨荧光原位杂交技术(FISH)应用于羊水间期细胞进行产前诊断可行性。[方法]应用着丝粒探针、特异性序列探针对102例产前诊断孕妇的未培养羊水间期细胞进行FISH分析,对5条染色体(13号、18号、21号、X和Y)进行检测,以羊水细胞培养染色体常规核型分析作为结果对照。[结果]99例羊水间期细胞检测正常,发现3例异常胎儿,分别为21三体,18三体,13三体。FISH检测与常规核型分析结果一致。[结论]FISH技术快速、简便、可靠,达到产前诊断要求,有较大临床应用价值。[Objective] To evaluate the possibility of prenatal diagnosis by using fluorescence in situ hybridization （FISH） in interphase amniocyte cells.[Methods] The uncultured amniocytes of 102 cases were analyzed by FISH method,using α-satellite DNA and specific sequence probe,to examine chromosomes 13,18,21,X and Y.And chromosome karyotypes of these cases of cultured amniocytes were compared to the FISH results.[Results] The chromosome karyotype was normal in 99 cases.And abnormal chromosomes were found in three cases：one 21 trisome,one 18 trisome and one 13 trisome respectively.The results of FISH method matched karyotype analysis.[Conclusion] Interphase FISH method is an easy and quick test technique,it is very useful in rapid prenatal diagnosis.

关 键 词：染色体疾病 产前诊断 荧光原位杂交 羊水间期细胞 

分 类 号：R715.5[医药卫生—妇产科学]