国际生殖健康/计划生育 ›› 2021, Vol. 40 ›› Issue (4): 303-305.doi: 10.12280/gjszjk.20210068

• 病例报告 • 上一篇    下一篇

TUBB8基因突变致早期胚胎发育停滞一例

李文澍, 刘雪梅()   

  1. 264000 山东省烟台市,青岛大学附属烟台毓璜顶医院生殖医学中心
  • 收稿日期:2021-02-10 出版日期:2021-07-15 发布日期:2021-07-27
  • 通讯作者: 刘雪梅 E-mail:xuemeiliu02@yeah.net
  • 基金资助:
    国家自然科学基金(81601276)

A Case Report of Early Embryonic Arrest due to TUBB8 Mutation

LI Wen-shu, LIU Xue-mei()   

  1. Reproductive Medicine Center, Yantai Yuhuangding Hospital, Affiliated Hospital of Qingdao University, Yantai 264000, Shandong Province, China
  • Received:2021-02-10 Published:2021-07-15 Online:2021-07-27
  • Contact: LIU Xue-mei E-mail:xuemeiliu02@yeah.net

摘要:

青岛大学附属烟台毓璜顶医院生殖医学中心对1例反复体外受精/卵细胞质内单精子注射(IVF/ICSI)助孕后早期胚胎发育停滞的患者进行了全外显子基因检测,发现了一种新的TUBB8基因突变型(c.208C>T/p.Pro70Ser),并进一步探讨了TUBB8基因突变与早期胚胎发育停滞之间的联系,为反复种植失败的诊断与治疗提供更多可能性。

关键词: 基因, 突变, 胚胎发育停滞, TUBB8基因, 体外受精, 精子注射, 细胞质内

Abstract:

The mutation in TUBB8 gene (c.208C>T/p.Pro70Ser) was found in a patient with early embryonic arrest after repeated IVF/ICSI. The association betweenTUBB8 mutation and early embryonic arrest was further explored. This study provides more possibilities for the diagnosis and treatment of patients with recurrent implant failure.

Key words: Genes, Mutation, Embryonic development, TUBB8 gene, Fertilization in vitro, Sperm injections, intracytoplasmic