染色体平衡易位影响基因组稳定性的临床研究

Clinical effect of chromosome balanced translocation study of the effect on genomic stability

目的探索染色体平衡易位是否影响基因组稳定性。方法利用回顾性分析将2019年1月至2020年12月在山东大学附属生殖医院行胚胎植入前染色体结构重排检测患者分成两组,实验组为染色体平衡易位携带者来源的异常染色体,对照组为平衡易位携带者的配偶来源的异常染色体,通过单体型分析确认异常胚胎中非易位相关异常染色体的双亲来源,探索平衡易位是否会引起更多染色体异常的发生,从而明确平衡易位对于基因组稳定性的影响。结果非易位相关染色体片段异常亲本来源分析结果显示,实验组显著高于对照组,即平衡易位携带者来源的片段异常显著高于正常核型来源的片段异常,对于整条染色体异常和嵌合染色体异常,两组无显著性差异。结论在减数分裂过程中,染色体平衡易位可能是导致染色体片段异常增加的因素之一,最终影响基因组的稳定性。

Objective To explore the effect of chromosome balanced translocation on genomic stability.Methods Abnormal embryos from patients with preimplantation genetic testing for structural rearrangements(PGTSR)indication between January 2019 and December 2020 in Reproductive Hospital Affiliated of Shandong University were divided into two groups.The experimental group was the abnormal chromosome derived from the carriers of the balanced translocation,and the control group was the abnormal chromosome derived from the spouse of the balanced translocation carriers.The parental origin of abnormal chromosomes was identified by haploid analysis to explore the effect of balanced translocation on genomic stability.Results The results of parental origin of non-translocation related abnormal chromosomal fragments showed the experimental group was significantly higher than the control group.As for the whole and mosaic chromosomal abnormality,there was no significant difference between the two groups.Conclusion During meiosis,balanced translocation could affect genome stability by increasing abnormal chromosomal fragments.