Front Genet. 2021 Feb 16;12:609563. doi: 10.3389/fgene.2021.609563. eCollection 2021.
Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations.
Frontiers in genetics
Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Min Xiao, Saijuan Zhu, Yanping Xi, Jing Fu, Yijuan Sun, Congjian Xu, Xiaoxi Sun
Affiliations
Affiliations
- Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
- Key Laboratory of Female Reproductive Endocrine Related Diseases, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
PMID: 33679881
PMCID: PMC7928295 DOI: 10.3389/fgene.2021.609563
Abstract
BACKGROUND: Robertsonian translocations are common structural rearrangements and confer an increased genetic reproductive risk due to the formation of trivalent structure during meiosis. Studies on trivalent structure show meiotic heterogeneity between different translocation carriers, although the factors causing heterogeneity have not been well elaborated in blastocysts. It is also not yet known whether interchromosomal effect (ICE) phenomenon occurs in comparison with suitable non-translocation control patients. Herein, we aimed to evaluate the factors that cause meiotic heterogeneity of trivalent structure and the ICE phenomenon.
METHODS: We designed a retrospective study, comprising 217 Robertsonian translocation carriers and 134 patients with the risk of transmitting monogenic inherited disorders (RTMIDs) that underwent preimplantation genetic testing (PGT). Data was collected between March 2014 and December 2019. The segregation products of trivalent structure were analyzed based on the carrier's gender, age and translocation type. In addition, to analyze ICE phenomenon, aneuploidy abnormalities of non-translocation chromosomes from Robertsonian translocation carriers were compared with those from patients with RTMIDs.
RESULTS: We found that the percentage of male carriers with alternate segregation pattern was significantly higher [
CONCLUSIONS: Our study demonstrated that meiotic segregation heterogeneity of trivalent structure is associated with the carrier's gender and translocation type, and it is independent of carrier's age. ICE phenomenon exists during meiosis and then increases the frequencies of additional chromosome abnormalities.
Copyright © 2021 Zhang, Lei, Wu, Zhou, Xiao, Zhu, Xi, Fu, Sun, Xu and Sun.
Keywords: ICE; Robertsonian translocation; meiotic heterogeneity; segregation patterns; trivalent structure
Conflict of interest statement
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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