Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH).
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH).
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发表时间：
1992-07
影响因子：
9.8
通讯作者：
K. Klinger;G. Landes;D. Shook;R. Harvey;Linda Lopez;Pat Locke;T. Lerner;R. Osathanondh;B. Leverone;T. Houseal;K. Pavelka;W. Dackowski
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作者：
K. Klinger;G. Landes;D. Shook;R. Harvey;Linda Lopez;Pat Locke;T. Lerner;R. Osathanondh;B. Leverone;T. Houseal;K. Pavelka;W. Dackowski
在这里，我们报告了第一个主要的前瞻性研究的结果，直接比较了间期核荧光原位杂交检测非整倍体与细胞遗传学分析的结果。我们构建了来自人类染色体21、18、13、X和Y特定亚区的探针，当与抑制杂交一起使用时，这些探针会给出单一拷贝样信号。总共对526份独立的羊水样本进行了盲法分析。在117个样本上分析了所有五个探针，而这五个探针的亚群用于其余样本(由于样本量不足)，总共进行了900多次常染色体杂交反应和400多次性染色体杂交反应。在这个盲序列中，21个异常样本中有21个被正确识别。其余的样本被正确地归类为这五条染色体的二体。主要由粘粒重叠组成的染色体特异探针集与优化的杂交/检测相结合，可以在未培养的人羊水细胞中进行准确的染色体计数，与传统细胞遗传学分析的结果一致。
Herein we report the results of the first major prospective study directly comparing aneuploidy detection by fluorescence in situ hybridization of interphase nuclei with the results obtained by cytogenetic analysis. We constructed probes derived from specific subregions of human chromosomes 21, 18, 13, X, and Y that give a single copy-like signal when used in conjunction with suppression hybridization. A total of 526 independent amniotic fluid samples were analyzed in a blind fashion. All five probes were analyzed on 117 samples, while subsets of these five probes were used on the remaining samples (because of insufficient sample size), for a total of over 900 autosomal hybridization reactions and over 400 sex chromosome hybridization reactions. In this blind series, 21 of 21 abnormal samples were correctly identified. The remaining samples were correctly classified as disomic for these five chromosomes. The combination of chromosome-specific probe sets composed primarily of cosmid contigs and optimized hybridization/detection allowed accurate chromosome enumeration in uncultured human amniotic fluid cells, consistent with the results obtained by traditional cytogenetic analysis.