促排卵周期中卵母细胞的基因组亚显微结构变异的研究

项目名称： 促排卵周期中卵母细胞的基因组亚显微结构变异的研究

项目编号： No.81200444

项目类型： 青年科学基金项目

立项/批准年度： 2013

项目学科： 医学二处

项目作者： 吴畏

作者单位： 南京医科大学

项目金额： 23万元

中文摘要： 随着近30年辅助生殖技术（ART）的蓬勃发展，促排卵技术的广泛应用，其安全性已成为研究热点。我们前期胚胎植入前遗传学筛查结果和文献报道均提示，超促排卵周期卵母细胞染色体非整倍体比例高达50%～70%。卵母细胞染色体非整倍体，显示卵母细胞基因组宏观的变化，而微观的基因组亚显微结构变化尚不清楚。拷贝数变异（CNV）是基因组重排导致的基因组亚显微结构变异，是重要的遗传致病因素之一，大多发生在减数分裂过程中，与出生缺陷直接相关。本研究拟用最新的高密度基因芯片技术对自然周期和不同促排卵周期的卵母细胞极体进行染色体数目和CNV检测及验证。通过结果比对，探索CNV在减数分裂过程中的稳定性，揭示不同促排卵方案的卵母细胞在减数分裂中CNV的传递规律及形成机制。为促排卵方案的优化选择及ART远期潜在风险评估提供新的证据，为预防出生缺陷、发展ART相关新技术并提高其安全性提供新的思路。

中文关键词： 辅助生育技术；安全性；促排卵；非整倍体；拷贝数变异

英文摘要： After the booming of nearly 30 years of assisted reproductive technology (ART),with controlled ovarian hyperstimulation(COH) at the core,its security has become the focus of attention.Our previous preimplantation genetic screening results and and other reports suggested that the chromosome aneuploidy rate was as high as 50%-70% in COH cycle.The chromosome aneuploidy of oocytes indicated macrostructural changes of genome but in contrast, little is known about submicroscopic structural variation of genome. Copy number variation (CNV)，the submicroscopic structural variation of genome caused by genomic rearrangements, occurring most frequently in the process of meiosis, is an important genetic factor and associated with many birth defects such as Down's syndrome, congenital heart disease, autism and so on. It has been a hot topic in the field of life sciences in recent years; however, how CNV of the oocytes is changed in the COH cycle is unknown.The aim of the study was to detect chromosome number and CNV of oocyte polar bodies of natual cycle and different COH cycles by using the new-high-density SNPs + CNV array technology.Through comparing the polar body results of natural cycle with those of COH cycles, the project explored the stability of CNV in the process of meiosis and revealed different CNV formation and t

英文关键词： assisted reproductive technology；security；controlled ovarian stimulation；aneuploidy；copy number variation