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首页> 外文期刊>Expert Review of Molecular Diagnostics >Multicolor FISH methods in current clinical diagnostics.
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Multicolor FISH methods in current clinical diagnostics.

机译：当前临床诊断中的多色FISH方法。

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摘要

Multicolor FISH (mFISH) assays are currently indispensable for a precise description of derivative chromosomes. Routine application of such techniques on human chromosomes started in 1996 with the simultaneous use of all 24 human whole-chromosome painting probes in multiplex-FISH and spectral karyotyping. Since then, multiple approaches for chromosomal differentiation based on multicolor-FISH (MFISH) assays have been developed. Predominantly, they are applied to characterize marker or derivative chromosomes identified in conventional banding analysis. Since the introduction of array-based comparative genomic hybridization (aCGH), mFISH is also applied to verify and further delineate aCGH-detected aberrations. For the latter, it is important to consider the fact that aCGH cannot detect or characterize balanced rearrangements, which are important to be resolved in detail in infertility diagnostics. In addition, mFISH is necessary to distinguish different imbalanced situations detectable in aCGH; small supernumerary marker chromosomes have to be differentiated from insertions or unbalanced translocations. This review presents an overview on the available mFISH methods and their applications in pre- and post-natal clinical genetics.
机译：对于衍生染色体的精确描述，目前多色FISH（mFISH）检测是必不可少的。此类技术于1996年开始在人类染色体上常规应用，同时在多重FISH和光谱核型分析中同时使用了所有24种人类全染色体绘画探针。从那时起，已经开发了多种基于多色FISH（MFISH）分析的染色体分化方法。主要地，它们被用于表征常规条带分析中鉴定的标记或衍生染色体。由于引入了基于阵列的比较基因组杂交（aCGH），因此mFISH也被用于验证和进一步描绘aCGH检测到的像差。对于后者，重要的是要考虑aCGH无法检测或表征平衡重排的事实，这一点在不孕症诊断中需要详细解决。另外，mFISH对区分aCGH中可检测到的不同失衡情况是必要的。多余的小标记染色体必须与插入或不平衡易位区分开。这篇综述概述了可用的mFISH方法及其在产前和产后临床遗传学中的应用。

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