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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.

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/c133/10000260/5c8196c16da6/GGN2-4-2200001-g001.jpg

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