| Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes. | |
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MedLine Citation:
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PMID: 10982178 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In order to detect aneuploidy in interphase human lymphocytes, both in vivo and in vitro, fluorescence in situ hybridization (FISH) was carried out on binucleated cells cytokinesis-blocked by cytochalasin B at the first mitosis after phytohemagglutinin stimulation. A pericentric chromosome-21-specific DNA probe prepared from yeast artificial chromosome clone 881D2 by the polymerase chain reaction was employed. One thousand binucleated cells per individual were scored from cultures from twelve trisomy 21 patients aged 0.01-8.9 years (mean 4.3 years) and 20 normal children of similar age. Of trisomy 21 patients, increased frequencies of disomic cells in vivo (1.690+/-1.070%) and cells containing six signals with nondisjunction (0.822+/-0.554%) were found, compared with those of monosomic 21 cells in vivo (0.265+/-0.130%) and cells containing four signals with nondisjunction in normal children (0.369+/-0.250%; P=0.000 and P=0.000, respectively). These results show that malsegregation of chromosome 21 occurs more often in trisomic 21 cells than in disomic cells from normal children. The frequency of nondisjunction was significantly higher than the loss of chromosome 21 in both cultured trisomic (0.822+/-0.554% vs 0.043+/-0.049%, P=0.000) and disomic (0.369+/-0.250% vs 0.010+/-0.30%, P=0.000) cells. Comparisons of in vivo and in vitro data on aneuploidy indicate that a cell selection mechanism may exist in vivo. All these results show that FISH, with a chromosome-specific probe, on binucleated lymphocytes is a powerful tool for simultaneously detecting mosaic cell lines in vivo and malsegregation (loss and nondisjunction) of a corresponding chromosome in vitro in the same cell population. |
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Authors:
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Q Shi; I D Adler; J Zhang; X Zhang; X Shan; R Martin |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Human genetics Volume: 106 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 2000 Jan |
Date Detail:
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Created Date: 2000-09-22 Completed Date: 2000-09-22 Revised Date: 2006-04-06 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 29-35 Citation Subset: IM |
Affiliation:
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Institut für Säugetiergenetik, GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, Germany. qshi@ucalgary.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Case-Control Studies Cell Division / genetics Cell Line Centromere / ultrastructure Child Child, Preschool Chromosome Segregation* Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 21* Down Syndrome / genetics* Female Genetic Markers Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Lymphocytes / ultrastructure Male Models, Genetic Mosaicism* Polymerase Chain Reaction |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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