...
首页> 外文期刊>Mayo Clinic Proceedings >Prenatal detection of aneuploidy by directly labeled multicolored probes and interphase fluorescence in situ hybridization.
【24h】

Prenatal detection of aneuploidy by directly labeled multicolored probes and interphase fluorescence in situ hybridization.

机译:通过直接标记的彩色探针和相间荧光原位杂交进行产前非整倍性检测。

获取原文
获取原文并翻译 | 示例
           

摘要

OBJECTIVE: To detect aneuploidy of chromosomes 13, 18, 21, X, and Y with use of new, directly labeled, multicolored, commercially available DNA probes from interphase cells of amniotic fluid (AF). MATERIAL AND METHODS: The hybridization sites of the five probes were validated by metaphase analysis. The fluorescence in situ hybridization (FISH) normal range was determined from a series of normal AF specimens and tested on a series of normal and abnormal specimens. RESULTS: The hybridization efficiencies of the five probes were 100%. The mean AF interphase disomic signal patterns for chromosomes 13, 18, 21, XX, and XY were 95.9%, 89.1%, 94.3%, 94.7%, and 98.7%, respectively. Of a total of 508 cases analyzed, 211 were aneuploid. All cases were correctly identified and no false results occurred (in comparison with karyotypic analysis), although maternal cell contamination was relatively common. CONCLUSION: Clinical screening for aneuploidy of chromosomes 13, 18, 21, X, and Y from interphase AF cells is possible with use of these probes and FISH. Cases of maternal cell contamination and mosaicism necessitate cautious interpretation. The FISH procedure is recommended for screening of common aneuploidies, followed by a complete chromosome analysis to detect anomalies.
机译:目的:使用新的,直接标记的,彩色的,市售的来自羊水(AF)间期细胞的DNA探针,检测13、18、21,X和Y染色体的非整倍性。材料与方法:通过中期分析验证了五种探针的杂交位点。从一系列正常AF标本确定荧光原位杂交(FISH)正常范围,并在一系列正常和异常标本上进行测试。结果:五种探针的杂交效率均为100%。染色体13、18、21,XX和XY的平均AF相间二项信号模式分别为95.9%,89.1%,94.3%,94.7%和98.7%。在分析的508例病例中,有211例为非整倍体。尽管母体细胞污染相对普遍,但所有病例均已正确识别,且未发生错误结果(与核型分析相比)。结论:使用这些探针和FISH技术可以从相间AF细胞中筛选出染色体13、18、21,X和Y的非整倍性。孕妇细胞污染和镶嵌的情况需要谨慎解释。建议使用FISH程序筛选常见的非整倍性,然后进行完整的染色体分析以检测异常。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号