Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, Jena D-07743, Germany.
Expert Rev Mol Diagn. 2013 Apr;13(3):251-5. doi: 10.1586/erm.12.146.
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.
多色荧光原位杂交（mFISH）检测目前是精确描述衍生染色体不可或缺的手段。1996 年，通过在多重荧光原位杂交和光谱核型分析中同时使用 24 个人类全染色体涂染探针，开始常规应用此类技术于人类染色体。自那时以来，已经开发出多种基于多色荧光原位杂交（MFISH）检测的染色体分化方法。这些方法主要应用于对常规显带分析中鉴定的标记或衍生染色体进行特征描述。自从基于阵列的比较基因组杂交（aCGH）问世以来，mFISH 也被用于验证和进一步描绘 aCGH 检测到的异常。对于后者，需要考虑到一个事实，即 aCGH 无法检测或特征化平衡重排，这些重排在不孕诊断中需要详细解决。此外，mFISH 对于区分 aCGH 中可检测到的不同不平衡情况是必要的；必须区分小的额外标记染色体与插入或不平衡易位。这篇综述概述了现有的 mFISH 方法及其在产前和产后临床遗传学中的应用。
