分子遗传学因素导致完全受精失败一例报告

Total fertilization failure due to molecular genetic factors:a case report

体外受精的成功需要配子成熟、受精和早期胚胎发育,每一个环节的异常都会导致不孕和体外受精/卵胞质内单精子注射反复失败。沈阳菁华医院生殖中心发生1例反复体外受精完全受精失败的特殊病例,先后对男女进行遗传学分析,结果显示女方存在TUBB8 c.322G>A位点杂合突变,突变来源于父亲,高度怀疑该基因杂合突变是导致患者不受精的原因。采用供卵治疗仍然不受精,后对男方的遗传学进行分析发现男方存在PLCζ1 c.C588A位点纯合突变。当发生完全受精失败时,为避免漏诊需要同时分析男女双方原因,为后续治疗提供正确的指导。

The success of in vitro fertilization requires gamete maturation,fertilization and early embryonic development.Abnormalities in each step will lead to infertility and repeated failures of in vitro fertilization/intracytoplasmic sperm injection.A special case of repeated total fertilization failure occurred in the Reproductive Center of Shenyang Jinghua Hospital.The genetic analysis on male and female was conducted successively,and the results showed that the female had a heterozygous mutation at the TUBB8 c.322G>A locus,which originated from her father.It was highly suspected that the heterozygous mutation of this gene was the cause of infertility.After using the oocyte donation treatment,the male was still unfertilized.After genetic analysis,it was found that the male had homozygous mutation at PLCζ1 c.C588A locus.When total fertilization fails,it is necessary to analyze the reasons of both male and female at the same time to avoid missed diagnosis,so as to provide correct guidance for follow-up treatment.