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雌原核变异揭示卵母细胞或胚胎染色体拷贝数变异

Variation of Female Pronucleus Reveals Oocyte or Embryo Chromosomal Copy Number Variations.

作者信息

Yang Jingwei, Wang Yikang, Li Chong, Han Wei, Liu Weiwei, Xiong Shun, Zhang Qi, Tong Keya, Huang Guoning, Zhang Xiaodong

机构信息

Center for Reproductive Medicine Women and Children's Hospital of Chongqing Medical University Chongqing Health Center for Women and Children Chongqing 400010 China.

Chongqing Key Laboratory of Human embryo Engineering Chongqing 400010 China.

出版信息

Adv Genet (Hoboken). 2022 Nov 10;4(1):2200001. doi: 10.1002/ggn2.202200001. eCollection 2023 Mar.

DOI:10.1002/ggn2.202200001
PMID:36910589
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10000260/
Abstract

The characteristics of the human pronuclei (PNs), which exist 16-22 h after fertilization, appear to serve as good indicators to evaluate the quality of human oocyte and embryo, and may reflect the status of female and male chromosome composition. Here, a quantitative PN measurement method that is generated by applying expert experience combined with deep learning from large annotated datasets is reported. After mathematic reconstruction of PNs, significant differences are obtained in chromosome-normal rate and chromosomal small errors such as copy number variants by comparing the size of the reconstructive female PN. After integrating the whole procedure of PN dynamics and adjusting for errors that occur during PN identification, the results are robust. Notably, all positive prediction results are obtained from the female propositus population. Thus, the size of female PNs may mirror the internal quality of the chromosomal integrity of the oocyte. Embryos that develop from zygotes with larger female PNs may have a reduced risk of copy number variations.

摘要

人类原核(PNs)在受精后16 - 22小时出现,其特征似乎是评估人类卵母细胞和胚胎质量的良好指标,并且可能反映雌雄染色体组成的状况。在此,报道了一种通过结合专家经验与来自大量注释数据集的深度学习生成的原核定量测量方法。对原核进行数学重建后,通过比较重建后的雌性原核大小,在染色体正常率和诸如拷贝数变异等染色体小误差方面获得了显著差异。在整合原核动态的整个过程并校正原核识别过程中出现的误差后,结果是可靠的。值得注意的是,所有阳性预测结果均来自女性先证者群体。因此,雌性原核的大小可能反映卵母细胞染色体完整性的内在质量。由具有较大雌性原核的受精卵发育而来的胚胎可能具有降低的拷贝数变异风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/ea34eb3f607a/GGN2-4-2200001-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/5c8196c16da6/GGN2-4-2200001-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/6e39fbb3c35f/GGN2-4-2200001-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/eb82f6561331/GGN2-4-2200001-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/00eabe1f9ab4/GGN2-4-2200001-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/ea34eb3f607a/GGN2-4-2200001-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/5c8196c16da6/GGN2-4-2200001-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/6e39fbb3c35f/GGN2-4-2200001-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/eb82f6561331/GGN2-4-2200001-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/00eabe1f9ab4/GGN2-4-2200001-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c133/10000260/ea34eb3f607a/GGN2-4-2200001-g005.jpg

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本文引用的文献

1
Blastomere movement correlates with ploidy and mosaicism in early-stage human embryos after fertilization.受精后早期人类胚胎中的卵裂球运动与倍性和嵌合现象相关。
Zygote. 2022 Feb;30(1):25-39. doi: 10.1017/S0967199420000817. Epub 2021 Jul 19.
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Parental genome unification is highly error-prone in mammalian embryos.父本和母本基因组的统一在哺乳动物胚胎中极易出错。
Cell. 2021 May 27;184(11):2860-2877.e22. doi: 10.1016/j.cell.2021.04.013. Epub 2021 May 7.
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Cytoplasmic movements of the early human embryo: imaging and artificial intelligence to predict blastocyst development.
早期人类胚胎的细胞质运动:成像和人工智能预测囊胚发育。
Reprod Biomed Online. 2021 Mar;42(3):521-528. doi: 10.1016/j.rbmo.2020.12.008. Epub 2020 Dec 24.
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Two mechanisms drive pronuclear migration in mouse zygotes.两种机制驱动小鼠受精卵的原核迁移。
Nat Commun. 2021 Feb 5;12(1):841. doi: 10.1038/s41467-021-21020-x.
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Application of convolutional neural network on early human embryo segmentation during in vitro fertilization.卷积神经网络在体外受精中早期人类胚胎分割中的应用。
J Cell Mol Med. 2021 Mar;25(5):2633-2644. doi: 10.1111/jcmm.16288. Epub 2021 Jan 24.
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Preimplantation Genetic Testing for Aneuploidy - a Castle Built on Sand.胚胎植入前遗传学检测 - 沙上之塔。
Trends Mol Med. 2021 Aug;27(8):731-742. doi: 10.1016/j.molmed.2020.11.009. Epub 2021 Jan 11.
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The time has come to reevaluate the fertilization check.是时候重新评估受精检查了。
Fertil Steril. 2021 Jan;115(1):74-75. doi: 10.1016/j.fertnstert.2020.11.009. Epub 2020 Nov 26.
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Do human embryos have the ability of self-correction?人类胚胎是否具有自我纠错能力?
Reprod Biol Endocrinol. 2020 Oct 6;18(1):98. doi: 10.1186/s12958-020-00650-8.
9
Obstetric and neonatal outcomes after the transfer of vitrified-warmed blastocysts developing from nonpronuclear and monopronuclear zygotes: a retrospective cohort study.非原核和单核受精卵发育的玻璃化冷冻解冻囊胚移植后的产科和新生儿结局:一项回顾性队列研究。
Fertil Steril. 2021 Jan;115(1):110-117. doi: 10.1016/j.fertnstert.2020.07.019. Epub 2020 Aug 18.
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Pronuclear and blastocyst morphology are associated age-dependently with embryo ploidy in fertilization cycles.原核和囊胚形态与受精周期中胚胎的倍性随年龄相关。
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