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反向绘画突出了染色体畸变的起源。

Reverse painting highlights the origin of chromosome aberrations.

作者信息

Blennow Elisabeth

机构信息

Department of Clinical Genetics, Karolinska Hospital, SE-171 76 Stockholm, Sweden.

出版信息

Chromosome Res. 2004;12(1):25-33. doi: 10.1023/b:chro.0000009277.42798.9a.

Abstract

Reverse chromosome painting, as the opposite of forward chromosome painting, means that an abnormal chromosome of interest is recovered by flow sorting or by chromosome microdissection, amplified and labelled by DOP-PCR and hybridized onto normal metaphases of optimal quality. This provides rapid and unequivocal information about the chromosomal origin on the aberrant chromosome in one hybridization. Not only will the specific chromosome(s) involved be identified, but also the subchromosomal origin, including the breakpoints. The method has been used for over 10 years and has proven to be very useful for resolving complex chromosome rearrangements in a variety of different applications, both as a research tool and for clinical purposes in pre- and postnatal diagnosis.

摘要

反向染色体涂染与正向染色体涂染相反,是指通过流式细胞分选或染色体显微切割回收感兴趣的异常染色体,经DOP-PCR扩增和标记后,与质量最佳的正常中期染色体进行杂交。这在一次杂交中就能提供关于异常染色体染色体起源的快速且明确的信息。不仅能识别涉及的特定染色体,还能确定亚染色体起源,包括断点。该方法已使用了十多年,在各种不同应用中,无论是作为研究工具还是用于产前和产后诊断的临床目的,都已证明对解决复杂染色体重排非常有用。

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