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

INTRODUCTION

The observation of balanced chromosomal aberration is common in patients with fertility problems and/or repeated abortions. There is evidence that the chromosomal breakpoints involved in constitutional balanced chromosomal rearrangements such as balanced translocations, inversions, insertions, balanced complex rearrangements, or derivative chromosomes leading to no imbalance, appear in a non random distribution along the human karyotype [1]. In a previous study, we showed that ~88% of such break-events arose in GTG-light bands, 21% co-localized with intrachromosomal telomeric-like sequences (ITS), 35.8% were at or near the Mariner transposon-like elements (MTLE), and at least 45% could have had a correlation with fragile sites (FS) [1]. Surprisingly, the idea that such “breakpoint prone” regions could be involved in chromosomal rearrangements in general, and thus also in constitutional balanced chromosomal rearrangements, is relatively new [2,3]. Also, the possible link of low-copy repeat clusters and recurrent human translocations is discussed [4]. Recently, 230 FS were reported, including 61as yet unreported ones [5]. Thus, these FS were aligned with breakpoints involved in constitutional chromosomal rearrangements.

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