体外受精中人卵母细胞异常的分子遗传学因素分析

Molecular genetic factors analysis of abnormal human oocyte during in vitro fertilization

目的 随着接受IVF/ICSI助孕患者的数量不断增加,许多患者被确定为反复IVF/ICSI失败。然而,失败背后的遗传学基础在很大程度上仍然未知。方法 本研究对2019-2021年沈阳菁华医院生殖中心共59例两次或两次以上出现卵子成熟障碍、空卵泡、受精异常、胚胎质量差的不孕症患者进行了疾病相关基因检测。结果 其中12例患者检测到与卵子异常相关的已知基因异常,检出率20.3%。12例检出异常基因的病例中,TUBB8异常的患者有5例,占比41.6%,并且TUBB8异常病例的表型多样,有卵子成熟障碍、受精障碍、胚胎质量差等。3例空卵泡患者均检出ZP基因异常。之后对部分检出异常基因的患者进行家系分析,确定突变来源。结论 遗传学因素分析对这部分患者的后续治疗有指导意义,同时为发生类似情况的患者提供参考意见,对连续两次出现卵子异常或反复IVF/ICSI失败的患者建议进行遗传学检测,排查遗传学原因,防止盲目治疗。

Objective With the increase in the number of patients receiving IVF/ICSI treatment,many patients were identified as recurrent IVF/ICSI failures.However,the genetic basis behind the failure remains largely unknown.Methods From 2019 to 2021,the Reproductive Center of Shenyang Jinghua Hospital carried out relevant gene testing on 59 infertility patients with two or more times of oocyte maturation failure,empty follicle,abnormal fertilization and poor embryo quality.Results Among them,12 patients detected known genetic abnormalities related to oocyte abnormalities,with a detection rate of 20.3%.Among the 12 cases with abnormal genes,5 cases(41.6%)had abnormal TUBB8.In addition,TUBB8 abnormal cases have various phenotypes,including oocyte maturation failure,fertilization failure and poor embryo quality.ZP gene abnormalities were detected in all 3 patients with empty follicles.Then parts of patients with abnormal genes were analyzed to determine the source of mutation.Conclusion Genetic factor analysis is of guiding significance for the follow-up treatment of these patients,and also provides reference for patients with similar questions.Patients with oocyte abnormalities or repeated IVF/ICSI fail-ures twice were advised to take genetic testing,for identify genetic causes,and prevent blind treatment.