新的卵子成熟障碍致病基因的鉴定与功能研究

In Vitro Fertilization (IVF) depends on the fusion of a sperm cell with a mature oocyte to form a fertilized egg.The production of immature oocytes that are not capable of fertilization.Using whole exome sequencing followed by conventional Sanger sequencing, we identified different missense mutations c.G940C and c.C2045A in the gene M.In this study, we will research the function of suspected gene and determine whether M causes the oocyte maturation failure. The results of this project will disclose the molecular mechanism of oocyte maturation failure, search for the appropriate drug target, provide important scientific basis for early warning and intervention measures of oocyte maturation failure and hoping to provide new theoretical support for clinical treatment.

体外受精（IVF）依赖于成熟的卵子与精子结合形成受精卵。成熟障碍的卵子往往不能受精而导致IVF失败，卵子成熟障碍的致病机制十分复杂。我们收集并鉴定了一个遗传卵子成熟障碍家系，对该家系进行外显子组测序分析，发现某基因两个错义突变c.G940C和c.C2045A。本项目拟对这一新发现的疑似基因进行功能研究，确定它是否导致卵子成熟障碍的致病基因。本项目的研究有助于阐明卵子成熟障碍致病的分子机理，为开发卵子成熟药物提供新的靶点，对卵子成熟障碍的预防和治疗具有重要意义，为临床治疗提供新的理论支持。