title: Application of multi-PRINS to simultaneously identify chromosomes 18, X, and Y in prenatal diagnosis.
abstract: Since its discovery by Koch in 1989, primed in situ labeling (PRINS) reaction provides an alternative approach for direct detection of human chromosomes. The multiple color (multi)-PRINS technique can simultaneously and specifically display different chromosomes with different colors in the same metaphase or interphase nucleus by using sequential labeling of different chromosome targets. We developed a triple-PRINS reaction on uncultured amniotic cells by omitting the blocking step and taking advantage of mixing two fluorochromes (fluorescein and rhodamine) to create a third color for simultaneous detection in the same amniocytes of three different chromosome targets, e.g., chromosomes 18, X, and Y. Fluorescent signals corresponding to chromosomes 18, X, and Y were shown as yellow, red, and green color spots, respectively. Multi-PRINS is as accurate and reliable as multicolor fluorescent in situ hybridization (multi-FISH) for the detection of aneuploidies involving chromosomes 18, X, and Y. Furthermore, multi-PRINS represents a faster and more cost-effective alternative to FISH for prenatal testing of aneuploidy in uncultured amniocytes.
authors.affiliation: Science of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Quebec, Canada.
authors.forename: Macoura
authors.initials: M
authors.lastname: Gadji
authors.forename: Kada
authors.initials: K
authors.lastname: Krabchi
authors.forename: Ju
authors.initials: J
authors.lastname: Yan
authors.forename: Règen
authors.initials: R
authors.lastname: Drouin
mesh_terms: D000649:Amniocentesis; D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D019793:Fluorescein; D005456:Fluorescent Dyes; D018507:Gene Expression Regulation, Developmental; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D020401:Primed In Situ Labeling; D015203:Reproducibility of Results; D012235:Rhodamines
chemical_list: D005456:Fluorescent Dyes; D012235:Rhodamines; D019793:Fluorescein