Abstract：
This retrospective cohort study aimed to assess the effect of chromosomal reciprocal translocation on meiotic segregation products of non-translocation chromosomes. A total of 744 reciprocal translocation carriers and 875 non-carriers were included in this study. A total of 6,832 blastocysts were biopsied and tested by next-generation sequencing. Blastocysts from the carrier group were classified into five subgroups according to the theoretical segregation pattern of quadrivalent structure. For carrier patients, normal meiotic segregation products of the non-translocation chromosome were classified after excluding the segregation modes of the quadrivalent structure. The proportion of normal non-translocation chromosome meiotic segregation products was similar between the carrier and noncarrier groups (p = 0.69). The generalized Estimation Equation revealed that there was no correlation between reciprocal translocation and meiotic segregation products of non-translocation chromosomes. Moreover, subgroup analyses showed that the segregation modes of quadrivalent structure (p = 0.00) and carrier\'s gender (p = 0.00) may affect the meiotic segregation products of non-translocation chromosomes. In conclusion, reciprocal translocation does not directly reduce the proportion of normal segregation products of non-translocation chromosomes. The difference among subgroups of different quadrivalent segregation patterns implied that interchromosomal effect may exist but the high incidence of chromosomal abnormalities for reciprocal translocation carriers should not be attributed to interchromosomal effect.
摘要：
这项回顾性队列研究旨在评估染色体相互易位对非易位染色体减数分裂分离产物的影响。本研究共纳入744个相互易位携带者和875个非携带者。对总共6,832个胚泡进行活检并通过下一代测序进行测试。根据四价结构的理论分离模式，将载体组的囊胚分为五个亚组。对于携带者患者，在排除四价结构的分离模式后，对非易位染色体的正常减数分裂分离产物进行分类。正常非易位染色体减数分裂分离产物的比例在载体和非载体组之间相似（p=0.69）。广义估计方程表明，非易位染色体的相互易位和减数分裂分离产物之间没有相关性。此外，亚组分析表明，四价结构（p=0.00）和携带者性别（p=0.00）的分离模式可能会影响非易位染色体的减数分裂分离产物。总之,相互易位不会直接降低非易位染色体正常分离产物的比例。不同四价分离模式的亚组之间的差异暗示可能存在染色体间效应，但相互易位携带者的染色体异常的高发生率不应归因于染色体间效应。
