| TUBB8基因突变致早期胚胎发育停滞一例 |
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| 引用本文： | 李文澍,刘雪梅. TUBB8基因突变致早期胚胎发育停滞一例[J]. 国际生殖健康/计划生育杂志, 2021, 40(4): 303-305. DOI: 10.12280/gjszjk.20210068 |
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| 作者姓名： | 李文澍 刘雪梅 |
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| 作者单位： | 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 |
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| 基金项目： | 国家自然科学基金(81601276) |
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| 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。
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| 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 |
| 收稿时间： | 2021-02-10 |
A Case Report of Early Embryonic Arrest due to TUBB8 Mutation |
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| LI Wen-shu,LIU Xue-mei. A Case Report of Early Embryonic Arrest due to TUBB8 Mutation[J]. Journla of International Reproductive Health/Family Planning, 2021, 40(4): 303-305. DOI: 10.12280/gjszjk.20210068 |
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| Authors: | LI Wen-shu LIU Xue-mei |
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| Affiliation: | Reproductive Medicine Center, Yantai Yuhuangding Hospital, Affiliated Hospital of Qingdao University, Yantai 264000, Shandong Province, China |
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| 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. |
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| Keywords: | Genes Mutation Embryonic development TUBB8 gene Fertilization in vitro Sperm injections intracytoplasmic |
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