Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig |
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| Authors: | Y L Zheng M A Ferguson-Smith J P Warner M E Erguson-Smith C A Sargent N P Carter |
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| Institution: | 1. Human Molecular Genetics Group, Department of Pathology, University of Cambridge, U.K.;2. Cytogenetics Laboratory, East Anglian Regional Genetic Service, Addenbrook's Hospital, Cambridge, U.K. |
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| Abstract: | A comparison of the use of chromosome 21-specific libraries, DOP-PCR 21 paints, yeast artificial chromosome (YAC) clones, single cosmids, and a 21q cosmid contig as probes for the detection of the copy number of chromosome 21 in interphase cells by fluorescence in situ hybridization shows that the cosmid contig is a satisfactory probe for interphase analysis of chromosome 21. The contig cCMP21.a, which is 55 kb in length, is highly chromosome 21-specific and produces intense, compact signals in a high proportion of interphase cells. A retrospective blind analysis of coded uncultured amniotic fluid samples correctly detected four trisomy 21 cases out of 49 samples. |
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| Keywords: | Fluorescence in situ hybridization 21 Cosmid contig Uncultured amniocytes Trisomy 21 |
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