Article ID Journal Published Year Pages File Type
2813432 Diagnóstico Prenatal 2012 7 Pages PDF
Abstract
BACs-on-Beads (BoBs) technology is based on DNA sequences from Bacterial Artificial Chromosomes fixed in Luminex® microspheres. The study sample and the reference DNA are labeled with similar but complementary BoBsTM probes. After the hybridisation, signal intensities were analysed using the Luminex® 100/200 instrumental system. This technology has been applied to rapid prenatal diagnosis with a kit designed to analyse aneuploidy for chromosomes 13, 18, 21 and sex chromosomes, and a panel of 9 microdeletion syndromes: DiGeorge, Williams-Beuren, Prader-Willi, Angelman, Smith-Magenis, Wolf-Hirschhorn, Cri du Chat, Langer-Giedion, and Miller-Dieker syndrome. Based on a similar technology, KaryoLite-BoBs™ kit allows the identification of aneuploidy for all 24 chromosomes, and can be applied to the analysis of products of conception, among other possibilities. In this study we present our current experience in the application of BAC-on-Beads™ technology in 332 amniotic fluid samples; 48 chorionic villus samples and 71 samples from products of conception.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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