lifesciences
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Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization and FISH

Abstract:

Complex chromosomal rearrangements (CCR) represent rare structural chromosome abnormalities frequently associated with infertility. In this study, meiotic segregation in spermatozoa of an infertile normospermic carrier of a 4-breakpoint t(1;3;6) CCR was analysed. A newly developed array comparative genomic hybridization protocol was used, and all chromosomes in 50 single sperm cells were simultaneously examined. Three-colour FISH was used to analyse chromosome segregation in 1557 other single sperm cells. It was also used to measure an interchromosomal effect; sperm chromatin structure assay was used to measure chromatin integrity. A high-frequency of unbalanced spermatozoa (84%) was observed, mostly arising from the 3:3 symmetrical segregation mode. Array comparative genomic hybridization was used to detect additional aneuploidies in two out of 50 spermatozoa (4%) in chromosomes not involved in the complex chromosome rearrangement. Significantly increased rates of diploidy and XY disomy were found in the CCR carrier compared with the control group (P < 0.001). Defective condensation of sperm chromatin was also found in 22.7% of spermatozoa by sperm chromatin structure assay. The results indicate that the infertility in the man with CCR and normal spermatozoa was caused by a production of chromosomally unbalanced, XY disomic and diploid spermatozoa and spermatozoa with defective chromatin condensation

Credits:

Hornak M1, Vozdova M2, Musilova P2, Prinosilova P2, Oracova E3, Linkova V3, Vesela K3, Rubes J4.

  • 1. Central European Institute of Technology – Veterinary Research Institute, Hudcova 70, 621 00 Brno, Czech Republic; Repomeda, Centre for Assisted Reproduction 235, 615 00 Brno, Czech Republic.
  • 2. Central European Institute of Technology - Veterinary Research Institute, Hudcova 70, 621 00 Brno, Czech Republic.
  • 3. Repromeda, Centre for Assisted Reproduction, Vinicni 235, 615 00 Brno, Czech Republic.
  • 4. Central European Institute of Technology - Veterinary Research Institute, Hudcova 70, 621 00 Brno, Czech Republic; Repromeda, Centre for Assisted Reproduction, Vinicni 235, 615 00 Brno, Czech Republic.

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