Klinger K, Landes G, Shook D, Harvey R, Lopez L, Locke P, Lerner T, Osathanondh R, Leverone B, Houseal T
Brigham and Women's Hospital, Boston, MA.
Am J Hum Genet. 1992 Jul;51(1):55-65.
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.
在此，我们报告了第一项主要的前瞻性研究结果，该研究直接比较了间期细胞核荧光原位杂交检测非整倍体与细胞遗传学分析所得结果。我们构建了源自人类21号、18号、13号、X和Y染色体特定亚区域的探针，这些探针与抑制杂交结合使用时会产生单拷贝样信号。以盲法分析了总共526份独立的羊水样本。对117份样本分析了所有五种探针，而由于样本量不足，在其余样本上使用了这五种探针的子集，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。在这个盲法系列中，21份异常样本中的21份被正确识别。其余样本被正确分类为这五条染色体的二体性。主要由黏粒重叠群组成的染色体特异性探针组与优化的杂交/检测相结合，能够在未培养的人类羊水细胞中准确计数染色体，这与传统细胞遗传学分析所得结果一致。
