上海交通大学医学院附属国际和平妇幼保健院利用胚胎植入前遗传学诊断技术阻断家系遗传病

发布时间：2018-04-08 17:56

  本文选题：胚胎植入　切入点：上海交通大学　出处：《上海交通大学学报(医学版)》2017年03期

【摘要】：正2017年3月8日,在上海交通大学医学院附属国际和平妇幼保健院1例经胚胎植入前遗传学诊断(PGD)技术阻断家系遗传病的婴儿顺利降生。产妇曾育有2子,但均不幸夭折,被诊断为噬血细胞综合征。根据基因检测、家系共分离分析等关键步骤的检测结果,黄荷凤教授团队认为可以采用PGD技术实现该家系的遗传病阻断。针对该家系和致病基因的情况,团队为产妇建立了基于一代测序的胚胎植入前诊断体系。为了解决等位基因丢失(allele dropout)问
[Abstract]:March 8, 2017, in Shanghai Jiaotong University School of Medicine affiliated International Peace Maternity and Child Health Hospital of 1 patients with preimplantation genetic diagnosis (PGD) technique to block family genetic disease in infants born smoothly. Mothers had fathered 2 sons, but unfortunately died, was diagnosed with hemophagocytic syndrome. According to genetic testing, families were separated and detected the key step analysis, Professor Huang Hefeng believes the team can achieve the family of genetic diseases by using PGD technology. Aiming at the blocking pedigree and virulence genes, to establish a team of maternal generation sequencing embryos into the diagnosis system based on. In order to solve the problem of allelic loss (allele dropout).

【分类号】：R714.8

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