Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig.

Autor: Zheng YL; Department of Pathology, University of Cambridge, U.K., Ferguson-Smith MA, Warner JP, Ferguson-Smith ME, Sargent CA, Carter NP
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 1992 Nov; Vol. 12 (11), pp. 931-43.
DOI: 10.1002/pd.1970121113
Abstrakt: 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.
Databáze: MEDLINE