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染色体描绘:一门实用的技术。

Chromosome painting: a useful art.

作者信息

Ried T, Schröck E, Ning Y, Wienberg J

机构信息

National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A28, 49 Convent Drive, Bethesda, MD 20892-4470, USA.

出版信息

Hum Mol Genet. 1998;7(10):1619-26. doi: 10.1093/hmg/7.10.1619.

Abstract

Chromosome 'painting' refers to the hybridization of fluorescently labeled chromosome-specific, composite probe pools to cytological preparations. Chromosome painting allows the visualization of individual chromosomes in metaphase or interphase cells and the identification of both numerical and structural chromosomal aberrations in human pathology with high sensitivity and specificity. In addition to human chromosome-specific probe pools, painting probes have become available for an increasing range of different species. They can be applied to cross-species comparisons as well as to the study of chromosomal rearrangements in animal models of human diseases. The simultaneous hybridization of multiple chromosome painting probes, each tagged with a specific fluorochrome or fluorochrome combination, has resulted in the differential color display of human (and mouse) chromosomes, i.e. color karyotyping. In this review, we will summarize recent developments of multicolor chromosome painting, describe applications in basic chromosome research and cytogenetic diagnostics, and discuss limitations and future directions.

摘要

染色体“描绘”是指将荧光标记的染色体特异性复合探针库与细胞学标本进行杂交。染色体描绘能够使中期或间期细胞中的单个染色体可视化,并能在人类病理学中以高灵敏度和特异性识别染色体数目和结构异常。除了人类染色体特异性探针库外,越来越多不同物种的描绘探针也已问世。它们可用于跨物种比较以及人类疾病动物模型中染色体重排的研究。多个染色体描绘探针同时杂交,每个探针都标记有特定的荧光染料或荧光染料组合,从而实现了人类(和小鼠)染色体的差异颜色显示,即彩色核型分析。在本综述中,我们将总结多色染色体描绘的最新进展,描述其在基础染色体研究和细胞遗传学诊断中的应用,并讨论局限性和未来方向。

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