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- Title
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
- Authors
Bhatt, Samarth; Moradkhani, Kamran; Mrasek, Kristin; Puechberty, Jacques; Manvelyan, Marina; Hunstig, Friederike; Lefort, Genevieve; Weise, Anja; Lespinasse, James; Sarda, Pierre; Liehr, Thomas; Hamamah, Samir; Pellestor, Franck
- Abstract
Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of these rearrangements, using either the human–hamster fertilization system or fluorescence in situ hybridization (FISH) with centromeric or telomeric DNA probes. To improve the assessment of imbalances in PAI, we present a new strategy based on FISH assay using multiple bacterial artificial chromosome probes, which allow a precise localization of chromosome break points and the identification of all meiotic products in human sperm. Sperm samples of three cases with PAI were investigated: an inv(5)(q13.2q33.1), an inv(9)(q21.2q34.13) and an inv(14)(q23.2q32.13). The frequencies of spermatozoa with inverted chromosomes were 44.7% in inv(5), 42.7% in inv(9) and 46.7% in inv(14). The global incidences of unbalanced complements were 9.7, 12.6 and 3.7% in inv(5), inv(9) and inv(14), respectively. This report is the first study providing a detailed description of meiotic segregation patterns in human sperm by using a sperm FISH approach. This study demonstrates that the detailed analysis of segregation in PAI may provide important data for both genetic analysis and counseling of inversion carriers.European Journal of Human Genetics (2009) 17, 44–50; doi:10.1038/ejhg.2008.144; published online 6 August 2008
- Subjects
SPERMATOZOA; CELL nuclei; CHROMOSOMES; IN situ hybridization
- Publication
European Journal of Human Genetics, 2009, Vol 17, Issue 1, p44
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2008.144