Hum. Reprod. Advance Access originally published online on August 17, 2006
Human Reproduction 2007 22(1):136-141; doi:10.1093/humrep/del317
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Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization
1 Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan 2 Laboratoire d’Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest 3 Service de Génétique 4 CECOS, Biologie de la Reproduction, CHU Bretonneau, Tours and 5 CECOS Franche-Comté, Service de Génétique, Histologie, Biologie du Développement et de la Reproduction, CHU Saint Jacques, Besançon, France
6 To whom correspondence should be addressed at: Laboratoire de Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F-29238 Brest cedex 3, France. E-mail: marc.debraekeleer{at}univ-brest.fr
BACKGROUND: Pericentric inversions are structural chromosomal abnormalities resulting from two breaks, one on either side of the centromere, within the same chromosome, followed by 180° rotation and reunion of the inverted segment. They can perturb spermatogenesis and lead to the production of unbalanced gametes through the formation of an inversion loop. METHODS: We report here the analysis of the meiotic segregation in spermatozoa from six pericentric inversion carriers by multicolour fluorescence in-situ hybridization (FISH) and review the literature. RESULTS: The frequencies of the non-recombinant products (inversion or normal chromosomes) were 80% for the inv(20), 91.41% for the inv(12), 99.43% for the inv(2), 68.12% for the inv(1), 97% for the inv(8)(p12q21) and 60.94% for the inv(8)(p12q24.1). The meiotic segregation of 20 pericentric inversions (including ours) is now available. The frequency of unbalanced spermatozoa varies from 0 to 37.85%. The probability of a crossover within the inverted segment is affected by the chromosome and region involved, the length of the inverted segment and the location of the breakpoints. CONCLUSIONS: No recombinant chromosomes were produced when the inverted segment involved <30% of the chromosome length (independent of the size of the inverted segment). Between 30 and 50%, few recombinant chromosomes were produced, inducing a slightly increased risk of aneusomy of recombination in the offspring. The risk of aneusomy became very important when the inverted segment was >50% of the chromosome length. Studies on spermatozoa from inversion carriers help in the comprehension of the mechanisms of meiotic segregation. They should be integrated in the genetic exploration of the infertile men to give them a personalized risk assessment of unbalanced spermatozoa.
Key words: meiotic segregation/molecular cytogenetics/pericentric inversion
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