去核卵母细胞捐赠技术及其临床应用进展

doi:10.12280/gjszjk.20250190

摘要/Abstract

摘要：

去核卵母细胞捐赠（enucleated oocyte donation，EOD）技术又称为线粒体捐赠技术，旨在将患者卵母细胞/受精卵的核遗传物质移植到健康去核供体卵母细胞的胞质中，阻断线粒体DNA（mitochondrial DNA，mtDNA）突变向子代遗传或解决因卵胞质因素导致的胚胎发育阻滞问题。EOD技术主要包括原核移植（pronuclear transfer，PNT）、极体移植（polar body transfer，PBT）和纺锤体-染色体复合体移植（spindle-chromosome complex transfer，ST），其中PNT与ST均已成功帮助mtDNA突变女性携带者和反复体外受精-胚胎移植失败女性获得临床妊娠，但是有部分子代仍携带少量mtDNA突变，甚至发生核供体的残留mtDNA比例升高。第一极体移植（first polar body transfer，PB1T）也已在mtDNA突变女性获得不含突变的重构囊胚。EOD技术目前仍面临多方面挑战：医学上存在受精卵损伤风险，伦理争议聚焦于三亲结构中捐赠者地位，安全性方面涉及线粒体与细胞核相容性问题及突变mtDNA的遗传风险，监管层面需防范临床滥用和知情同意缺失。

关键词: DNA, 线粒体, 不育, 女（雌）性, 体外受精, 胚胎移植, 去核卵母细胞捐赠

Abstract:

The technology of enucleated oocyte donation (EOD), also known as mitochondria donation, aims to transfer the nuclear genetic material of the patient′s oocytes or fertilized eggs into the cytoplasm of healthy enucleated donor oocytes, in order to block the inheritance of mitochondrial DNA (mtDNA) mutations to offspring or solve the problem of embryonic development arrest caused by cytoplasmic factors. EOD technology mainly includes pronuclear transfer (PNT), polar body transfer (PBT), and spindle-chromosome complex transfer (ST). Both PNT and ST have successfully helped female carriers of mtDNA mutations and women with repeated in vitro fertilization-embryo transfer failures to achieve clinical pregnancy. However, some offspring still carry a small amount of mtDNA mutations, and even have an increased proportion of residual mtDNA mutations. The first polar body transfer (PB1T) has also been used to obtain the mutant free reconstructed blastocysts in women with mtDNA mutations. EOD technology still faces multiple challenges: there is a risk of fertilized egg damage in medicine, ethical controversies focus on the status of donors in the three parent structure and their impact on offspring, safety concerns involve compatibility issues between mitochondria and cell nuclei, and genetic risks of mutated mtDNA. Regulatory authorities need to prevent clinical abuse and the lack of informed consent.

Key words: DNA, mitochondrial, Infertility, female, Fertilization in vitro, Embryo transfer, Enucleated oocyte donation

杨静, 纪冬梅. 去核卵母细胞捐赠技术及其临床应用进展[J]. 国际生殖健康/计划生育杂志, 2025, 44(6): 496-500.

YANG Jing, JI Dong-mei. Progress in Enucleated Oocyte Donation and Its Clinical Application[J]. Journal of International Reproductive Health/Family Planning, 2025, 44(6): 496-500.

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