Li Gang, Shi Weiyi, Niu Wenbin, Xu Jiawei, Guo Yihong, Su Yingchun, Sun Yingpu
Reproductive Medical Center, Henan Province Key Laboratory for Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Front Physiol. 2020 Nov 26;11:543188. doi: 10.3389/fphys.2020.543188. eCollection 2020.
Traditionally, chromosomal polymorphisms (CPMs) are normal genetic variants in individuals with no phenotypic variations. However, some studies have shown that CPM is related to reproductive diseases. We explored the influence of CPM on embryonic development and molecular karyotype in chromosomal translocation (CT) patients undergoing preimplantation genetic testing (PGT) between February 2013 and May 2019. Twenty-six cases with CPM and 56 controls with normal chromosomes were included. Furthermore, a 1:4 match pair analysis by female age included 39 cases with CTCPM and 185 controls with CT. There was no statistical difference in fertilization rate (78.48% vs. 78.33%), cleavage rate on Day 3 (90.32% vs. 89.16%), blastocyst rate (60.00% vs. 60.80%), and the high-quality blastocyst rate (36.31% vs. 35.22%) between CPM and normal chromosomes. The high-quality blastocyst rate of CTCPM was significantly lower than that for CT (26.78% vs. 38.89%). Moreover, there was no statistical difference in fertilization rate (70.65% vs. 70.37%), cleavage rate on Day 3 (88.67% vs. 89.53%), and blastocyst rate (48.48% vs. 53.17%) between CTCPM and CT. In addition, one CTCPM spouse had a lower high-quality blastocyst rate, especially of males with CTCPM. Abnormal embryo rates of CTCPM were significantly higher than those for CT (78.64% vs. 68.93%). Abnormal embryo rates were higher in both CTCPM and CPM paternal carriers with CT partners, respectively. For CT, CTCPM may have an impact on the high-quality blastocyst rate and embryonic molecular karyotype, especially in male patients. Patients with CTCPM are relatively rare, but this population would benefit from being explored using a larger sample size.
传统上，染色体多态性（CPMs）是个体中无表型变异的正常遗传变体。然而，一些研究表明CPM与生殖疾病有关。我们探讨了2013年2月至2019年5月期间接受植入前基因检测（PGT）的染色体易位（CT）患者中CPM对胚胎发育和分子核型的影响。纳入了26例CPM患者和56例染色体正常的对照。此外，按女性年龄进行的1:4匹配对分析包括39例CTCPM患者和185例CT对照。CPM组与染色体正常组在受精率（78.48%对78.33%）、第3天的卵裂率（90.32%对89.16%）、囊胚率（60.00%对60.80%）和优质囊胚率（36.31%对35.22%）方面无统计学差异。CTCPM组的优质囊胚率显著低于CT组（26.78%对38.89%）。此外，CTCPM组与CT组在受精率（70.65%对70.37%）、第3天的卵裂率（88.67%对89.53%）和囊胚率（48.48%对53.17%）方面无统计学差异。此外，一名CTCPM配偶的优质囊胚率较低，尤其是男性CTCPM患者。CTCPM组的异常胚胎率显著高于CT组（78.64%对68.93%）。在CTCPM组和有CT伴侣的CPM父系携带者中，异常胚胎率均较高。对于CT，CTCPM可能会影响优质囊胚率和胚胎分子核型，尤其是在男性患者中。CTCPM患者相对较少，但这一人群将受益于更大样本量的研究。
