DETECTING ABNORMAL HUMAN-CHROMOSOME CONSTITUTIONS BY DUAL LASER FLOW CYTOGENETICS

DETECTING ABNORMAL HUMAN-CHROMOSOME CONSTITUTIONS BY DUAL LASER FLOW CYTOGENETICS
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DOI:
10.1002/ajmg.1320250314
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发表时间:
1986-11-01
期刊:
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子:
--
通讯作者:
CHEUNG, MC
CHEUNG, MC
中科院分区:
其他
文献类型:
--
作者:
LEBO, RV;GOLBUS, MS;CHEUNG, MC

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我们定制的双激光染色体分选仪已被用于快速鉴定和分离人类中期染色体,用于基因定位目的。在这里,我们测试了该系统对未知的人类染色体异常构成的检测能力。这些结果通过显带和显微照相与常规细胞遗传学分析相比较。使用该分选器对两种不同的染色对:DIPI-chroomycin和Hoechst-chroomycin染色的每个细胞系进行分析。在20分钟内,两个直方图代表2倍。每对染色对都收集了105条染色体。用流动分析对11个样本进行盲法研究,发现异常染色体与Giemsa显带核型诊断具有很好的一致性。非整倍体通过每个直方图峰的染色体数目的变化来识别,而缺失和易位等重排导致直方图峰位置的移位。直方图峰移的方向和距离与染色体大小和带型的变化直接相关。我们的结论是,双激光流动分析可以为染色体异常的筛查和诊断提供一种快速的方法。
Our custom dual laser chromosome sorter has been used to characterize and isolate metaphase human chromosomes rapidly for gene mapping purposes. Herein, we tested how well this system could detect unknown abnormal human chromosome constitutions. These results were compared to those of conventional cytogenetic analyses by banding and photomicrography. The sorter was used to analyze each cell line stained with two different stain pairs: DIPI-chromomycin and Hoechst-chromomycin. In 20 min, two histograms representing 2 .times. 105 chromosomes each were collected for each stain pair. A blind study of 11 samples by flow analysis demonstrated excellent concordance between the abnormal chromosomes detected and the diagnoses of Giemsa-banded karyotypes. Aneuploidy was identified by changes in the number of chromosomes in each histogram peak, while rearrangements such as deletions and translocations caused shifts in the histogram peak positions. The direction and distance of histogram peak shifts are directly related to alterations in chromosome size and banding pattern. We conclude that dual-laser flow analysis may provide a rapid approach to the screening and diagnosis of chromosome abnormalities.