采用基因组测序技术进行胚胎种植前遗传学筛查的方法学研究及应用  

Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles

作　　者：程东凯[1] 翁宁[1] 许蓬[1] 孙晓玲[1] 杨凯 王丹红 许展[1] 于洪君[1] 邢丽贤 房建凯 李彩虹[1] 刘吉[1] 李宝山[1] 周娜[1] 

机构地区：[1]沈阳东方医疗集团菁华医院生殖实验室,沈阳110005 [2]北京嘉宝仁和医疗科技有限公司,北京100089

出　　处：《中华细胞与干细胞杂志（电子版）》2015年第2期38-42,共5页Chinese Journal of Cell and Stem Cell（Electronic Edition）

摘　　要：目的采用第三代测序技术(NGS),对辅助生殖种植前的胚胎进行染色体非整倍性筛查,以提高移植胚胎的质量和试管婴儿的成功率。方法首先采用接受试管婴儿技术治疗不孕症的夫妇多余的正常囊胚进行方法学研究。采用多重置换扩增法扩增细胞基因组DNA。在此基础上对一对不孕症夫妇的囊胚进行检测,并指导囊胚选择。结果正常囊胚DNA抽提后,琼脂糖凝胶电泳显示扩增的DNA产物质量符合要求。文库构建后进行测序,数据结果显示为正常样本。在成功建立方法的基础上,选择的囊胚发育良好,成功孕育健康胎儿并导致健康婴儿出生。结论 NGS是一个可靠的胚胎染色体非整倍性筛查技术。该方法具有通量高、可自动化等优点,可以提高异常染色体的诊断水平。Objective The study was aimed to explore next-generation sequencing （NGS） technique for comprehensive aneuploidy screening of human embryos from patients undergoing IVF treatments, with the purpose of identifying and selecting chromosomally normal embryos for transfer. Method The study first established an evaluation method for detecting aneuploidy with NGS techniques of blastocysts obtained from clinical IVF cycles. Multiple displacement amplification （MDA） was used to amplify genomic DNA. Evaluation was carried out in one infertile couple. Results NGS data verified that normal embryos had normal chromosomes. Clinical application of the NGS-based approach was demonstrated in the birth of one healthy baby. Conclusion NGS is a reliable methodology, with the potential to improve chromosomal diagnosis on embryos especially in terms of high-throughput, automation and ability to detect aneuploidy.

关 键 词：遗传筛查 测序 生殖技术 辅助 囊胚 

分 类 号：R714.8[医药卫生—妇产科学]