Related Experiment Video
Updated: Jan 16, 2026
11:13
Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
Published on: April 10, 2018
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Genetic landscape of human oocyte/embryo defects.
Biaobang Chen1, Weijie Wang2, Juanzi Shi3
1Institute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China; NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Cell Genomics
|September 26, 2025
Summary
Genetic analysis of 3,627 patients revealed key genetic causes for oocyte/embryo defects, improving diagnosis for infertility and failed in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) attempts.
Area of Science:
- Reproductive Biology
- Human Genetics
- Genomics
Background:
- Oocyte/embryo defects lead to infertility and recurrent IVF/ICSI failures.
- Genetic causes for these defects are largely unknown.
- The diagnostic yield of genetic testing for these conditions is unevaluated.
Purpose of the Study:
- To identify genetic determinants of human oocyte/embryo defects.
- To evaluate the diagnostic yield of exome sequencing for these defects.
- To discover novel candidate genes associated with oocyte/embryo defects.
Main Methods:
- Exome sequencing was performed on 3,627 patients with oocyte/embryo defects.
- Case-control association studies were conducted.
- Gene set enrichment analysis was utilized.
Main Results:
- Identified 479 positive cases with variants in 37 known genes, yielding a diagnostic rate of 13.2%.
- Discovered 123 novel candidate genes implicated in oocyte/embryo defects.
- Established a comprehensive genetic landscape of these defects.
Conclusions:
- Genetic factors play a significant role in oocyte/embryo defects.
- Genetic counseling is crucial for infertile patients.
- Findings support a shift towards precision genetic medicine for infertility treatment.
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