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Mol. Hum. Reprod. Advance Access published online on October 3, 2007
Molecular Human Reproduction, doi:10.1093/molehr/gam048
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm

S. Bhatt1, K. Moradkhani3, K. Mrasek4, J. Puechberty3, G. Lefort3, J. Lespinasse5, P. Sarda3, T. Liehr4, S. Hamamah1,2 and F. Pellestor1,2,6

1 INSERM U847, Montpellier, France 2Department of Reproduction Biology, CHU Montpellier, Montpellier, France 3Department of Medical Genetics, CHU Montpellier, Montpellier, France 4 Institute of Human Genetics and Anthropology, Jena, Germany 5 Laboratory of Cytogenetics, CHR Chambery, France

6 Correspondence address. Department of Medicine and Biology of Reproduction, Arnaud de Villeneuve Hospital, CHRU Montpellier, 371, avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex 5, France. Tel: +33 4 67 33 64 04; Fax: +33 4 67 33 62 90; E-mail: f-pellestor{at}chu-montpellier.fr

Paracentric inversions (PAI) are structural chromosomal rearrangements generally considered to be harmless. Nevertheless, cases of viable recombinants have been reported, indicating the interest of studying the meiotic behaviour of these chromosomal abnormalities. To date, the few studies reported have been performed using either the human–hamster fertilization system or fluorescence in situ hybridization with centromeric or telomeric DNA probes. In order to improve the assessment of meiotic segregation in PAI, we present a new strategy based on the use of bacterial artificial chromosome (BAC) probes which allow a precise localization of chromosome breakpoints and the identification of all meiotic products in human sperm. Sperm samples from carriers of an inv(5) and an inv(14) were used to test this new high-resolution procedure.

Key Words: paracentric inversion/FISH/breakpoint characterization/segregation

Submitted on June 26, 2007; accepted on July 11, 2007.


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