Balkan Journal of Medical Genetics

EVIDENCE FOR CORRELATION OF FRAGILE SITES AND CHROMOSOMAL BREAKPOINTS IN CARRIERS OF CONSTITUTIONAL BALANCED CHROMOSOMAL REARRANGEMENTS
Liehr T*, Kosayakova N, Schröder J, Ziegler M, Kreskowski K, Pohle B, Bhatt S, Theuss L, Wilhelm K, Weise A, Mrasek K
*Corresponding Author: Thomas Liehr, Universitätsklinikum Jena, Institut für Humangenetik, Postfach, D-07740 Jena, Germany; Tel.: +49-3641-935533; Fax. +49-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 13

MATERIALS AND METHODS

Two-hundred and fifty-one patients were studied cytogenetically due to different reasons such as infertility of unclear origin, previous pregnancies with unbalanced outcome, or detection of a balanced rearrangement in prenatal diagnostics with later birth of normal children. In all of them different cytogenetic aberrations were detected such as balanced translocations (127 cases), inversions (105 cases), insertions (three cases), balanced complex rearrangements (four cases), or derivative chromosomes leading to no imbalance (12 cases) (Supplementary Table 1). Cytogenetic preparations were done according to standard procedures and the results are listed in the Supplementary Table 1. To further characterize the chromosomal breakpoints involved, multicolor banding (MCB) [6,7] and/ or subcentromeric multicolor fluorescence in situ hybridization (subcenM-FISH) [8] were applied. To study a possible correlation of FS and constitutional chromosomal breakpoints (Supplementary Table 2), bacterial artificial chromosome (BAC) probes specific for FRA1A (RP11-19M4), FRA4C (RP11-1289C17), FRA9K (RP11-280P22), FRA10F (RP11-310M21) and FRA11G (RP11-172C16) were applied together with corresponding whole chromosome painting (wcp) probes in two-color-FISH experiments in nine selected cases, in which still cell suspension was available (Figure 1; Table 1). As FS usually span several megabases of DNA [5], a co-localization was not only suggested if a signal splitting appeared (as in case T-107), but also if the specific signal was less than 1 diameter of BAC signal away from the breakpoint itself, as highlighted by the corresponding wcp probe. This cut-off was chosen, as it is known that wcp probes have a flaring effect, and apparently label a larger chromosomal part by fluorescence rather than “biologically true.”

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