Research question

Does the sex of reciprocal translocation carriers affect meiotic segregation patterns and stability of non-translocated chromosomes during meiosis?

Design

A total of 790 couples who underwent preimplantation genetic testing for reciprocal translocations by using the single nucleotide polymorphism (SNP) array platform between October 2016 and December 2019 were included. Among them, 294 couples had their euploid embryos distinguished between normal euploidies and balanced translocation carriers.

Results

Female translocation carriers had a significantly lower incidence of alternate segregation pattern than male carriers (43.26% versus 47.98%, P = 0.001), but a higher incidence of 3:1 segregation pattern (6.70% versus 4.29%, P < 0.001). Stratified analysis showed only female translocation carriers with acrocentric chromosome (Acr-ch) involved had a lower incidence of alternate segregation pattern and a higher incidence of 3:1 segregation pattern compared with male carriers (41.63% versus 47.73%, P = 0.012; 9.32% versus 5.03%, P = 0.001). In 2233 embryos of 294 couples with identification of normal and balanced embryos, no significant differences were found in the paternal-origin aneuploidy rate (5.61% versus 5.82%, P = 0.861) and the maternal-origin aneuploidy rate (12.82% versus 12.08%, P = 0.673) in both male and female carriers. After excluding segmental aneuploidies, no differences were found between male and female carriers in both paternal-origin aneuploidy rate (2.14% versus 1.75%, P = 0.594) and maternal-origin aneuploidy rate (11.75% versus 11.06%, P = 0.683).

Conclusion

The sex of the translocation carriers affected meiotic segregation patterns with no effect on the stability of non-translocated chromosomes during meiosis.

中文翻译：

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携带者性别对相互易位减数分裂模式和染色体稳定性的影响

研究问题

相互易位携带者的性别是否会影响减数分裂过程中非易位染色体的减数分裂模式和稳定性？

设计

共有 790 对夫妇在 2016 年 10 月至 2019 年 12 月期间使用单核苷酸多态性 (SNP) 阵列平台接受了相互易位的植入前基因检测。其中，294对夫妇的整倍体胚胎分为正常整倍体和平衡易位携带者。

结果

女性易位携带者的交替分离模式发生率显着低于男性携带者（43.26% 对 47.98%，P  = 0.001），但 3:1 分离模式的发生率更高（6.70% 对 4.29%，P < 0.001）。分层分析显示，与男性携带者相比，仅具有近端着丝粒染色体（Acr-ch）的女性易位携带者的交替分离模式发生率较低，而 3:1 分离模式的发生率较高（41.63% 对 47.73%，P  = 0.012；9.32 % 与 5.03%，P  = 0.001）。在294对正常胚胎和平衡胚胎鉴定的2233个胚胎中，父系非整倍体率无显着差异（5.61% vs 5.82%，P = 0.861）和母源性非整倍体率（12.82% 对 12.08%，P  = 0.673）在男性和女性携带者中。排除节段性非整倍体后，男性和女性携带者的父源非整倍体率（2.14% vs 1.75%， P  = 0.594）和母源非整倍体率（11.75% vs 11.06%，P  = 0.683）均无差异。

结论

易位携带者的性别影响减数分裂分离模式，而对减数分裂期间非易位染色体的稳定性没有影响。