[Quantitative analysis of fluorescence in situ hybridization (FISH) signals for molecular cytogenetic diagnosis]

Molecular cytogenetic diagnosis of chromosomal aberrations, by using fluorescence in situ hybridization (FISH) requires the introduction of quantitative approaches to estimating hybridization signals. Specifically, this estimation is required for the differentiation of monosomy and for the superposition of the signals in the diagnosis of mosaic forms of chromosomal syndromes, as well for the determination of the parental origin of homologous chromosomes. The present paper proposes an approach to rapidly estimating FISH signals, based on image capture by a CCD digital chamber and a fluorescence microscope, and to measuring the intensity of hybridization signals. This approach has been shown to be highly effective in differentiating the parent origin of chromosomes, by applying original chromosome-specific DNA tests. It has been successfully used in the study of numerical chromosomal aberrations in various biological materials. By taking into account the findings and as well as earlier described quantitative FISH analyses applied to basic studies, the authors discuss whether the quantitative FISH analyses can be used for the molecular cytogenetic diagnosis of hereditary diseases.