FISH技术在未培养羊水间期细胞产前诊断1例先天愚型的研究.docVIP

FISH技术在未培养羊水间期细胞产前诊断1例先天愚型的研究 【关键词】 双色荧光原位杂交 【摘要】 目的 本文报告1例曾生育1胎同源罗式易位先天愚型儿的中孕妇女，用双色荧光原位杂交（FISH）检测未培养羊水细胞，产前诊断先天愚型的研究。方法 （1）选择LSI21（红色标记）及CEP18（绿色标记）DNA探针，对未培养羊水行双色FISH，同时作常规细胞培养。（2）对引产胎儿实体组织直接制备间期细胞，行21号染色体单色FISH分析。结果 （1）96%羊水细胞显示3红、2绿荧光信号。（2）羊水培养胎儿核型为46，xx，-21，t（21;21），与第一胎基本类同。（3）引产物90%以上细胞有3个红色荧光信号。以上三项检测结果一致。结论 FISH是一种新型产前诊断失天愚型的有效方法。直接制备胎儿实体组织间期细胞行FISH分析，验证产前诊断准确性方法快速、简便。本例二次生育同源罗式易位先天愚型，病例实属罕见。 technique in uncultured amniotic fluid interphase cells Yu Shirong，Liu Yanqiu，Li Yuzhong，et al. Jiangxi Provincial Women and Children Health Hospital，Nanchang330006. 【Abstract】 Objective To report a case of Down’s syndrome diagnosed by FISH technique in uncultured amniotˉic fluid cells，prenatally in the second trimester，who had a baby with Down’s syndrome of homologous Robertsonian Translocation before.Methods （1）Dual-color FISH detection in uncultured amniotic fluid with red LSI21and green CEP18DNA probes was done.The cells were also cultured at the same time.（2）The interphase cells directly prepared from the tissue of labor induction fetus were examined with single-color FISH probe for twenty-first chromosomes.Results （1）96%amniotic cells showed three red and two green fluorescence signals.（2）The karyotype of cultured amˉniotic fluid cells was46，xx，21，t（21;21），the same as that of her first baby.（3）More than90%cells of labor induction fetus had three red signals.Above three results were consistent.Conclusion FISH is a new，effective method for prenatal diagnosis of Down’s syndrome.The FISH detection of directly prepared interphase cells of fetus tissue is quick and simˉple，can confirm the correctness of prenatal diagnosis.This case having two babies with Down’s syndrome of homologous Robertsonian Translocation，was really very rare. Key words D-FISH uncultured fluid cell prenatal diagnosis mongolian 21三体综合征（Trisomy21syndrome）又称先天愚型或唐氏综合征。发病率占所有染色体疾病中的首位，是产前诊断中常见的疾病。约95%的病人为单纯性，3%～4%为易位型，其余为嵌合型。罗伯逊易位（Robertsonian translocation，rob）简称罗式易位，是指发生在D组与G组通过着丝粒融合而成的易位。荧光原位（f