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

REPRODUCTIVE BIOMEDICINE ONLINE

卷:29

Article

Hornak, Miroslav^1,2  Vozdova, Miluse¹  Musilova, Petra¹  Prinosilova, Petra¹  Oracova, Eva²  Linkova, Vlasta²  Vesela, Katerina²  Rubes, Jiri^1,2 

[1] Cent European Inst Technol, Vet Res Inst, Brno 62100, Czech Republic

[2] Repromeda, Ctr Assisted Reprod, Brno 61500, Czech Republic

关键词: array CGH;    complex chromosome rearrangement;    interchromosomal effect;    male infertility;    meiotic segregation;    sperm aneuploidy;   

DOI  :  10.1016/j.rbmo.2014.06.014

来源: Elsevier

【 摘 要 】

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. (C) 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

【 授权许可】

Free