荧光原位杂交技术在快速诊断胎儿染色体数目异常中的应用  

Rapid detection for number abnomality of fetus chromosomes by fluorescence in situ hybridization technique

作　　者：莫耀禧[1] 黄莉[1] 何冰[1] 莫伟英[1] 陈春博[1] 卢慧[1] 

机构地区：[1]广西壮族自治区人民医院生殖医学与遗传中心,南宁530021

出　　处：《中国临床新医学》2010年第5期411-413,共3页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

基　　金：卫生部基金课题(编号:WKJ2007-3-001)

摘　　要：目的探讨荧光原位杂交(FISH)技术在快速产前诊断胎儿染色体数目异常中的价值。方法采用13、18、21、X和Y染色体特异性DNA探针,对123例高危孕妇的羊水间期细胞进行FISH检测,同时行常规染色体核型分析平行诊断,以此监测对比荧光原位杂交结果的准确性。结果所测123份标本的13、18、21、X、Y染色体数目均与常规染色体核型分析的结果相符,其中,检测结果显示染色体数目正常的为120例,染色体数目异常的为3例,分别为21-三体2例,18-三体1例;正、异常与常规染色体核型分析结果符合率均为100%。结论荧光原位杂交技术检测过程简单、快捷,特异性较强,且灵敏度较高,是一种可用于临床的快速产前诊断方法。Objective To investgate the clinical value of fluorescence in situ hybridization （FISH） in number abnomality of fetus chromosomes for rapid prenatal diagnosis. Methods The interphase nuclei of amniotic fluid from 123 pregnant women according with the indication of prenatal diagnosis were detected by chromose - specific DNA probes of 13, 18, 21, X and Y chromosomes, the routine analysis of amniotic ceils karyotypes was also performed at the same time. Results In the 123 samples, results of chromosomes 13, 18, 21, X and Y were concordant with diagnostic outcome of conventional chromosome karyotype analysis. One hundred and twenty detections showed normal chromosome. In 3 abnormal chromosome samples, trisome 21 were detected in 2 samples and trisome 18 was detected in 1 sample. Conclusion FISH technique exhibited the characters of rapidness, simplicity, high specificity and sensitivity, so it is a reliable and a rapid technique for prenatal diagnosis.

关 键 词：荧光原位杂交 产前诊断 细胞遗传学 

分 类 号：R394[医药卫生—医学遗传学]