Grati Francesca Romana, Vialard François, Gross Susan
Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays, S.p.A., Via Francesco Ferrer 25/27, 21052, Busto Arsizio, VA, Italy,
Methods Mol Biol. 2015;1227:259-78. doi: 10.1007/978-1-4939-1652-8_13.
BACs-on-Beads™ (BoBs™) is a new emerging technology, a modification of comparative genomic hybridization that can be used to detect DNA copy number gains and losses. Here, we describe the application of two different types of BoBs™ assays: (1) Prenatal BoBs (CE-IVD) to detect the most frequent syndromes associated with chromosome microdeletions, as well as the trisomy 13, 18 and 21, and (2) KaryoLite BoBs (RUO) which can detect aneuploidy in all chromosomes by quantifying proximal and terminal regions of each chromosomal arm. The interpretation of the results by BoBsoft™ software is also described. Although BoBs™ may not have the breadth and scope to replace chromosomal microarrays (array comparative genomic hybridization and single nucleotide polymorphism array) in the prenatal setting, particularly when a fetal anomaly has been detected, it is a well suited alternative for FISH or QF-PCR because BoBs™ is comparable, if not superior in terms of cost, turnaround time (TAT) and throughput and accuracy. BoBs™ also has the ability to detect significant fetal mosaicism (≥30% with Prenatal BoBs and ≥50% with KaryoLite BoBs). However, perhaps the greatest strength of this new technology is the fact that unlike FISH or QF-PCR, it has the ability to detect common microdeletion syndromes or additional aneuploidies, both of which may be easily missed despite excellent prenatal sonography. Thus, when BoBs™ is applied in the correct clinical setting and run and analyzed in appropriate laboratories this technique can improve and augment best practices with a personalization of prenatal care.
珠子上的细菌人工染色体（BACs-on-Beads™，简称BoBs™）是一种新兴技术，是对比较基因组杂交技术的改进，可用于检测DNA拷贝数的增加和减少。在此，我们描述了两种不同类型的BoBs™检测方法的应用：（1）产前BoBs（CE-IVD），用于检测与染色体微缺失相关的最常见综合征，以及13、18和21三体；（2）核型Lite BoBs（研究用），它可以通过量化每个染色体臂的近端和末端区域来检测所有染色体的非整倍性。还介绍了使用BoBsoft™软件对结果进行解读的方法。虽然在产前检查中，BoBs™可能没有足够的广度和范围来取代染色体微阵列（阵列比较基因组杂交和单核苷酸多态性阵列），特别是在检测到胎儿异常的情况下，但它是荧光原位杂交（FISH）或定量荧光聚合酶链反应（QF-PCR）的合适替代方法，因为在成本、周转时间（TAT）、通量和准确性方面，BoBs™即使不优于它们，至少也是相当的。BoBs™还能够检测显著的胎儿嵌合体（产前BoBs检测≥30%，核型Lite BoBs检测≥50%）。然而，这项新技术最大的优势可能在于，与FISH或QF-PCR不同，它能够检测常见的微缺失综合征或额外的非整倍性，尽管产前超声检查效果良好，但这两种情况都可能很容易被漏诊。因此，当在正确的临床环境中应用BoBs™，并在合适的实验室进行检测和分析时，这项技术可以通过个性化的产前护理来改进和完善最佳实践。
