1. Fluorescence in situ hybridization (FISH). Figs
Fluorescence in situ hybridization (FISH). Figs. 65-3A, 65-3B, 65-3G, and 65-3J demonstrate the use of unique sequence probes to identify deletions on metaphase chromosomes. Fig. 65-3C demonstrates the use of telomere-region specific probes to identify cryptic deletions and rearrangements. Figs. 65-3D and 65-3E demonstrate the use of multicolored “painting” probes to detect rearrangements of multiple chromosomes simultaneously. Figs. 65-3G, 65-3H, 65-3I, and 65-3K demonstrate the use of unique sequence probes for the identification of a variety of duplications and deletions involving adjacent regions hybridized by the probes. Through the use of this probe set, duplications of 17p11.2 and 17p12, and deletions of the same region can be identified in interphase nuclei. One patient (Fig. 65-3I) showed rearrangements of 17p on each of her homologous chromosomes FISH using a cosmid containing the SNRPN gene, mapping to 15q12 on a patient with Prader-Willi syndrome. The control probe hybridizes to the classical satellite DNA on the short arm of chromosome 15. The control probe is labeled with biotin and detected with avidin conjugated to fluorescein (fluoresces green). The test probe is labeled with digoxigenin and detected with antidigoxigenin conjugated to rhodamine (fluoresces red). The normal chromosome 15 shows a control (green) signal and a test (red) signal. The deleted chromosome 15 (arrow) shows only the control (green) signal. This result is seen in Prader-Willi syndrome patients who carry deletions. See Color Plate 2A.
Source: Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: November 02, 2017
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