Velagaleti G V, Carpenter N J, Tharapel A T
Clinical and Molecular Cytogenetics Laboratory, The University of Tennessee, Memphis, Tennessee, USA.
Ann Genet. 1997;40(3):154-7.
Marker chromosomes pose a serious problem in clinical cytogenetic diagnosis since the conventional banding analyses are often not useful in identifying their origin or composition. In the absence of information, counseling as to the clinical significance and prognosis is difficult, especially in prenatal diagnosis. With the introduction of fluorescence in situ hybridization (FISH) marker identification has became feasible. However, FISH is relatively time-consuming and expensive. In an effort to overcome these disadvantages, we have used primed in situ labelling (PRINS) technique as an alternative. Presented here is one case in which PRINS was useful in rapidly identifying the origin of a marker chromosome detected on amniotic fluid chromosome analysis. Based on our experience with this case and others, we propose that PRINS can become a viable and cost effective alternative to FISH and is as reliable as FISH in terms of accuracy, specificity, and sensitivity.
标记染色体在临床细胞遗传学诊断中是一个严重问题，因为传统的显带分析通常无助于确定其来源或组成。在缺乏相关信息的情况下，很难就其临床意义和预后提供咨询，尤其是在产前诊断中。随着荧光原位杂交（FISH）技术的引入，标记物识别变得可行。然而，FISH相对耗时且昂贵。为了克服这些缺点，我们使用了引物原位标记（PRINS）技术作为替代方法。本文介绍了一个病例，其中PRINS有助于快速确定羊水染色体分析中检测到的标记染色体的来源。基于我们对该病例及其他病例的经验，我们认为PRINS可以成为FISH可行且具有成本效益的替代方法，并且在准确性、特异性和敏感性方面与FISH一样可靠。
