Rooms Liesbeth, Reyniers Edwin, Kooy R Frank
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Hum Mutat. 2005 Jun;25(6):513-24. doi: 10.1002/humu.20185.
In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients need to be tested on a routine basis. In this review, we will discuss the different methods that have been applied in laboratories worldwide, including multiprobe fluorescence in situ hybridization (FISH), multiallelic marker analysis, multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, comparative genomic hybridization (CGH), and multicolor FISH, including spectral karyotyping (SKY), subtelomeric combined binary ratio labeling FISH (S-COBRA FISH), multiplex FISH telomere integrity assay (M-TEL), telomeric multiplex FISH (TM-FISH), and primed in situ labeling (PRINS).
近年来，亚端粒重排，例如因太小而无法通过传统细胞遗传学分析检测到的染色体缺失或重复，已成为特发性和家族性智力迟钝的一个重要原因。由于智力迟钝是一种常见疾病，许多患者需要进行常规检测。在这篇综述中，我们将讨论全球实验室中应用的不同方法，包括多探针荧光原位杂交（FISH）、多等位基因标记分析、多重可扩增探针杂交（MAPH）、多重连接依赖探针扩增（MLPA）、定量实时PCR、比较基因组杂交（CGH）以及多色FISH，包括光谱核型分析（SKY）、亚端粒联合二元比率标记FISH（S-COBRA FISH）、多重FISH端粒完整性检测（M-TEL）、端粒多重FISH（TM-FISH）以及引物原位标记（PRINS）。
